Trimethylaminuria (TMAU; primary trimethylaminuria), also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic disorder that causes a defect in the normal production of an enzyme named flavin-containing monooxygenase 3 (FMO3). When FMO3 is not working correctly or if not enough enzyme is produced, the body loses the ability to properly convert trimethylamine (TMA) from precursor compounds in food digestion into trimethylamine oxide (TMAO), through a process called N-oxidation. Trimethylamine then builds up and is released in the person's sweat, urine, and breath, giving off a strong fishy odor or strong body odor. A variant of TMAU (secondary trimethylaminuria or TMAU2) exists where there is no genetic cause, yet excessive TMA is secreted, possibly due to intestinal dysbiosis, altered metabolism, or hormonal causes.

Duchenne muscular dystrophy (DMD) (also known as muscular dystrophy - Duchenne type) is an eventually fatal disorder that is characterized by rapidly progressive muscle weakness and atrophy of muscle tissue starting in the legs and pelvis and later affecting the whole body. DMD is the most common form of muscular dystrophy. DMD affects young males, with onset of symptoms occurring usually before the sixth year. Women can be carriers of DMD but usually exhibit no symptoms. Two-thirds of DMD incidences are caused by genetic inheritance from the mother, while the remainder are caused by mutations in the genes of the egg or embryo. DMD is named after the French neurologist Guillaume Benjamin Amand Duchenne (1806-1875), who first described the disease in the 1860s. It is caused by mutations in the dystrophin gene, which encodes an essential cell membrane protein in myocytes (muscle cells). Becker's muscular dystrophy (BMD) is also caused by dystrophin mutations and has similar symptoms to Duchenne, but the onset is later and the course is milder.

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A Becker nevus is a late-onset birthmark occurring mostly in males. It is also known as Becker melanosis. It is due to an overgrowth of the upper layers of the skin, pigment cells and hair follicles.

Hereditary fructose intolerance (HFI) or fructose poisoning is a hereditary condition caused by a deficiency of liver enzymes that metabolise fructose. The deficient enzyme is fructose-1-phosphate aldolase-B, this means that the fructose cannot be further metabolised beyond fructose-1-phosphate. This traps phosphates; which are needed to phosphorolyse glycogen phosphorolase to carry on to make glucose. Therefore glucose cannot be made through the breakdown of glycogen nor from gluconeogenesis, resulting in severe hypoglycaemia. If fructose is ingested, other symptoms such as vomiting, jaundice, hemorrhage, hepatomegaly, hyperuricemia and eventually kidney failure will follow. Hereditary fructose intolerance should not be confused with fructose malabsorption or dietary fructose intolerance (DFI). Fructose malabsorption or Dietary Fructose Intolerance is a dietary disability of the small intestine in which the fructose carrier in enterocytes is deficient. Medical tests are similar as in lactose intolerance, requiring a hydrogen breath test for a clinical diagnosis. In patients with fructose malabsorption, the small intestine fails to absorb fructose properly. In the large intestine the unabsorbed fructose osmotically reduces the absorption of water and is metabolized by normal colonic bacteria to short chain fatty acids and the gases hydrogen, carbon dioxide and methane. The abnormal increase in hydrogen is detected with the hydrogen breath test. There is no known cure, but an appropriate diet will help. However, it is very difficult for undiagnosed sufferers to see any relationship between the foods they eat and the symptoms they suffer, even if they keep a daily diet diary. This is because most foods contain a mixture of fructose and glucose. Foods with more fructose than glucose are a problem, as are foods with a lot of fructose (regardless of the amount of glucose). However, depending upon the sufferer's sensitivity to fructose, small amounts of problem foods could be eaten (especially when they are not the main ingredient of a meal). Foods with a high glucose content actually help sufferers absorb fructose. This condition is common in patients with symptoms of irritable bowel syndrome. A small proportion of patients with both fructose malabsorption and lactose intolerance also suffer from celiac disease.

Adiposis dolorosa, also known as Dercum’s disease or Anders disease, is a rare condition characterized by generalized obesity and fatty tumors in the adipose tissue. The tumors are normally painful and found in multiples on the extremities. The cause and mechanism of Dercum’s disease remains unknown.

Bipolar disorder, previously known as manic depression, is a mental disorder that causes periods of depression and periods of elevated mood. The elevated mood is significant and is known as mania or hypomania, depending on its severity, or whether symptoms of psychosis are present. During mania, an individual behaves or feels abnormally energetic, happy, or irritable. Individuals often make poorly thought out decisions with little regard to the consequences. The need for sleep is usually reduced during manic phases. During periods of depression, there may be crying, a negative outlook on life, and poor eye contact with others.

Short Bowel Syndrome is a malabsorption disorder caused by either the surgical removal of the small intestine or the loss of its absorptive function due to diseases. Although rare some children are born like that. When that happens it is called Congenatial Short Bowel Syndrome In healthy adults, the small intestine has an average length of approximately 6 meters (20 feet). Short bowel syndrome usually appears when there is less than 1.8 meters (6 feet) of the small intestine left to absorb sufficient nutrients. Symptoms The symptoms of short bowel syndrome include: * Abdominal pain * Diarrhea * Steatorrhea or particularly foul-odored faeces * Oily or sticky stool * Fluid retention * Weight loss and malnutrition * Fatigue Patients with short bowel syndrome may have complications caused by malabsorption of vitamins and minerals, such as deficiencies in vitamins A, E, D, and B12, calcium, magnesium, iron, folic acid, and zinc. These may appear as anaemia, scaling of the skin or hyperkeratosis, easy bruising, muscle spasms, and bone pain. Causes Short bowel syndrome in adults is usually caused by: * Crohn's disease, an inflammatory disorder of the digestive tract * Volvulus, a spontaneous twisting of the small intestine that cuts off the blood supply and leads to necrosis or tissue death. * Cancer of the small intestine * Injury or trauma to the small intestine * Bowel bypass surgery to treat obesity, now a rarely performed surgical procedure to remove a portion of the small intestine. * Surgery to remove diseases or damaged portion of the small intestine. This condition can also develop in premature infants who have necrotizing enterocolitis, a serious disease where dead tissues in the lining of the small intestine needs to be surgically removed. Treatments Symptoms of short bowel syndrome are usually addressed by prescription medicine. These include: * Anti-diarrheal medicine * Vitamin and mineral supplements: See Ceralyte * H2 blocker and proton pump inhibitors to reduce stomach acid * Lactase supplement * Surgery, including intestinal lengthening, tapering, and organ transplant. * Parenteral nutrition (or nutrition administered via intravenous line). * Nutrition administered via Gastronomy Tube Intestinal adaptation Short bowel syndrome caused by the surgical removal of a portion of the bowel may be a temporary condition, due to the adaptive property of the small intestine. In a process called intestinal adaptation, physiological changes to the remaining portion of the small intestine occur to increase its absorptive capacity. These changes include: * Enlargement and lengthening of the villi found in the lining * Increase in the diameter of the small intestine * Slow down in peristalsis or movement of food through the small intestine Prognosis There is no cure for short bowel syndrome. In newborn infants, the 4-year survival rate on parenteral nutrition is approximately 70%. Although promising, small intestine transplant has a mixed success rate, with postoperative mortality rate of up to 30%. One-year and 4-year survival rate are 90% and 60%, respectively. A new surgical procedure called serial transverse enteroplasty(STEP) shows promise in lengthening dilated short bowel. STEP is usually performed by pediatric surgeons at quaternary hospital who specialize in small bowel surgery.

Narcissistic personality disorder is a mental disorder in which people have an inflated sense of their own importance, a deep need for admiration and a lack of empathy for others. But behind this mask of ultraconfidence lies a fragile self-esteem that's vulnerable to the slightest criticism.

Hirschsprung's disease (HD) is a form of megacolon that occurs when part or all of the large intestine or antecedent parts of the gastrointestinal tract have no ganglion cells and therefore cannot function. During normal prenatal development, cells from the neural crest migrate into the large intestine (colon) to form the networks of nerves called the myenteric plexus (Auerbach plexus) (between the smooth muscle layers of the gastrointestinal tract wall) and the submucosal plexus (Meissner plexus) (within the submucosa of the gastrointestinal tract wall).

Pancreatitis is inflammation in the pancreas. The pancreas is a long, flat gland that sits tucked behind the stomach in the upper abdomen. The pancreas produces enzymes that help digestion and hormones that help regulate the way your body processes sugar (glucose).

Depression is a state of low mood and aversion to activity or apathy that can affect a person's thoughts, behavior, feelings, and sense of well-being.

# Dandy Walker Syndrome Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid-filled spaces around it. The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the area of the brain between the two cerebellar hemispheres (cerebellar vermis), and cyst formation near the lowest part of the skull. An increase in the size of the fluid spaces surrounding the brain as well as an increase in pressure may also be present. The syndrome can appear dramatically or develop unnoticed. Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, problems with the nerves that control the eyes, face and neck, and abnormal breathing patterns. Dandy-Walker Syndrome is frequently associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum) and malformations of the heart, face, limbs, fingers and toes. ## Treatments Treatment for individuals with Dandy-Walker Syndrome generally consists of treating the associated problems, if needed. * A surgical procedure called a shunt may be required to drain off excess fluid within the brain. This will reduce intracranial pressure and help control swelling. ## Prognosis The spectrum of outcomes for Dandy–Walker syndrome is diverse. Mortality statistics are often compiled by neurologists who deal with worst-case outcomes, which thus reflect a high mortality rate, or grim prognosis – both pre- and postnatal – in DWS infants. Children with less severe symptoms may have normal intellectual development; children with severe malformation may have mental retardation. Longevity depends on the severity of the syndrome and associated malformations. The presence of multiple congenital defects may shorten life span. ## Precautions Parents of children with Dandy-Walker Syndrome may benefit from genetic counseling if they intend to have more children.

Benign granulomatous disease of unknown etiology characterized by a ring of localized or disseminated papules or nodules on the skin and palisading histiocytes surrounding necrobiotic tissue resulting from altered collagen structures.

Complex Regional Pain Syndrome (CRPS) is a chronic condition characterized by severe pain following injury to bone and soft tissue. The International Association for the Study of Pain has divided CRPS into two types based on the presence of nerve lesion following the injury. Type I, also known as Reflex sympathetic dystrophy (RSD), Sudeck's atrophy, Reflex neurovascular dystrophy (RND) or algoneurodystrophy, does not have demonstrable nerve lesions, while type II, also known as causalgia, has evidence of obvious nerve lesions. The cause of these syndromes is currently unknown. Precipitating factors include illness, injury.

Sleep apnea is a common disorder in which you have one or more pauses in breathing or shallow breaths while you sleep. Breathing pauses can last from a few seconds to minutes. They may occur 30 times or more an hour. Typically, normal breathing then starts again, sometimes with a loud snort or choking sound.

Cystic fibrosis (CF), also called mucoviscidosis, is a hereditary disease that affects the entire body, causing progressive disability and early death. Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply 'cystic fibrosis.' Difficulty breathing and insufficient enzyme production in the pancreas are the most common symptoms. Thick mucous production as well as a low immune system results in frequent lung infections, which are treated, though not always cured, by oral and intravenous antibiotics and other medications. A multitude of other symptoms, including sinus infections, poor growth, diarrhea, and potential infertility (mostly in males, due to the condition Congenital bilateral absence of the vas Deferens) result from the effects of CF on other parts of the body. Often, symptoms of CF appear in infancy and childhood; these include meconium ileus, failure to thrive, and recurrent lung infections. Cystic fibrosis is one of the most common life-shortening, childhood-onset inherited diseases. In the United States, 1 in 3900 children are born with CF. It is most common among Europeans and Ashkenazi Jews; one in twenty-two people of European descent carry one gene for CF, making it the most common genetic disease among them. Individuals with cystic fibrosis can be diagnosed prior to birth by genetic testing or in early childhood by a sweat test. Newborn screening tests are increasingly common and effective. There is no cure for CF, and most individuals with cystic fibrosis die young — many in their 20s and 30s from lung failure although with many new treatments being introduced the life expectancy of a person with CF is increasing. Ultimately, lung transplantation is often necessary as CF worsens. CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). The product of this gene helps create sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally. Therefore, CF is considered an autosomal recessive disease. The name cystic fibrosis refers to the characteristic 'fibrosis' (tissue scarring) and cyst formation within the pancreas, first recognized in the 1930s. Symptoms and signs The symptoms of cystic fibrosis depend on the age of an individual, the extent the disease affects specific organs, prior therapy, and the types of infections experienced. Cystic fibrosis affects the entire body and impacts growth, breathing, digestion, and reproduction. The newborn period may be marked by poor weight gain and intestinal blockage caused by thick feces. Other symptoms of CF appear during the remainder of childhood and early adulthood. These include continued problems with growth, the onset of lung disease, and increasing difficulties with poor absorption of vitamins and nutrients by the gastrointestinal tract. In addition, difficulties with fertility may become apparent when reproduction is attempted.

(also known as chronic adrenal insufficiency, or hypocortisolism) is a rare endocrine disorder in which the body produces insufficient amounts of adrenal steroid hormones (glucocorticoids and often mineralocorticoids). The condition was first described by British physician Thomas Addison in his 1855 publication, On the Constitutional and Local Effects of Disease of the Suprarenal Capsules. Those who have Addison's are often referred to in research and informational articles as "Addisonians". In primary adrenal insufficiency (classic Addison's disease) the hormone aldosterone is also deficient. Many of the symptoms of Addison's disease arise due to the hyposecretion of aldosterone leading to hyperkalemia (high blood potassium levels) and metabolic acidosis (increased acidity of the blood due to decreased bicarbonate levels). Often the production of adrenaline is also diminished. Treatment is with replacement of the hormones (oral hydrocortisone and fludrocortisone). If the disease is caused by an underlying problem, this is addressed. Regular follow-up and monitoring for other health problems is necessary.

Lichen Planus is an inflammatory disease that affects the skin and the oral mucosa. Cause The cause of lichen planus is not known(meant by cell mediated immunity), however there are cases of lichen planus-type rashes (known as lichenoid reactions) occurring as allergic reactions to medications for high blood pressure, heart disease and arthritis. These lichenoid reactions are referred to as lichenoid mucositis (of the mucosa) or dermatitis (of the skin). Lichen planus has been reported as a complication of chronic hepatitis C virus infection. It has been suggested that true lichen planus may respond to stress, where lesions may present on the mucosa or skin during times of stress in those with the disease. Lichen planus affects women more than men 3:2, and occurs most often in middle-aged adults. Lichen planus in children is rare. Clinical features The typical rash of lichen planus is well-described by the "5 P's": well-defined pruritic, planar, purple, polygonal papules. The commonly affected sites are near the wrist and the ankle. The rash tends to heal with prominent blue-black or brownish discoloration that persists for a long time. Besides the typical lesions, many morphological varieties of the rash may occur. The presence of cutaneous lesions is not constant and may wax and wane over time. Oral lesions tend to last far longer than cutaneous lichen planus lesions. Oral lichen planus may present in one of three forms. * The reticular form is the most common presentation and manifests as white lacy streaks on the mucosa (known as Wickham's striae) or as smaller papules (small raised area). The lesions tend to be bilateral and are asymptomatic. The lacy streaks may also be seen on other parts of the mouth, including the gingiva (gums), the tongue, palate and lips. * The bullous form presents as fluid-filled vesicles which project from the surface. * The erosive form presents with erythematous (red) areas that are ulcerated and uncomfortable. The erosion of the thin epithelium may occur in multiple areas of the mouth, or in one area, such as the gums, where they resemble desquamative gingivitis. Wickham's striae may also be seen near these ulcerated areas. This form may undergo malignant transformation. The microscopic appearance of lichen planus is pathognomonic for the condition * Hyperparakeratosis with thickening of the granular cell layer * Development of a "saw-tooth" appearance of the rete pegs * Degeneration of the basal cell layer * Infiltration of inflammatory cells into the subepithelial layer of connective tissue Lichen planus may also affect the genital mucosa - vulvovaginal-gingival lichen planus. It can resemble other skin conditions such as atopic dermatitis and psoriasis. Rarely, lichen planus shows esophageal involvement, where it can present with erosive esophagitis and stricturing. It has also been hypothesized that it is a precursor to squamous cell carcinoma of the esophagus.[citation needed] Clinical experience suggests that Lichen planus of the skin alone is easier to treat as compared to one which is associated with oral and genital lesions. Differential Diagnosis The clinical presentation of lichen planus may also resemble other conditions, including: * Lichenoid drug reaction * Discoid Lupus Erythematosus * Chronic Ulcerative Stomatitis * Pemphigus Vulgaris * Benign Mucous Membrane Pemphigoid * Oral leukoplakia * Fricional keratosis A biopsy is useful in identifying histological features that help differentiate lichen planus from these conditions.

Post-polio syndrome (PPS) is a condition that frequently affects survivors of poliomyelitis, a viral infection of the nervous system, after recovery from an initial paralytic attack of the virus. Typically the symptoms appear 20-40 years after the original infection, at an age of 35 to 60. Symptoms include new or increased muscular weakness, pain in the muscles, and fatigue. Some post-polio patients report having memory problems, or various other cognitive difficulties that are difficult to distinguish from normal aging. Some physicians have suspected that post-polio patients have an increased sensitivity to anesthetics, but rigorous work on the subject remains to be done. Weight gain is also a frequently noted symptom, though it is hard to tell if this is due to the disorder directly or due to the decreased level of physical activity that usually accompanies the disorder. Fatigue is often the most disabling symptom, as often even slight exertion can produce disabling fatigue and also increase other symptoms. Diagnosis of post-polio syndrome can be difficult, since the symptoms are hard to separate from the original symptoms of polio and from the normal infirmities of aging. There is no laboratory test for post-polio syndrome, nor is there any other specific diagnostic, so diagnosis is usually a "diagnosis of exclusion" where other possible causes of the symptoms are eliminated. The precise mechanism that causes post-polio syndrome is unknown. It shares many features in common with myalgic encephalomyelitis, a form of chronic fatigue syndrome that is apparently caused by viral infections, but unlike those disorders it tends to be progressive, and can cause tangible loss of muscle strength. One theory of the mechanism behind the disorder is that it is due to "neural fatigue" from overworked neurons. The original polio infection generally results in the death of a substantial fraction of the motor neurons controlling skeletal muscles, and the theory is that the remaining neurons are thus overworked and eventually wear out. Another theory holds that the original viral infection damages portions of the lower brain, possibly including the thalamus and hypothalamus. This somehow upsets the hormones that control muscle metabolism, and the result is a metabolic disorder similar to mitochondrial disorder that causes muscle pain and injury (via rhabdomyolysis) and also causes the fatigue. Some also believe that the original polio caused the atrophying of some muscles and as the person ages the weakness caused by loss of muscle mass due to aging is accelerated due the the person starting off with less muscle. Treatment generally is limited to supportive measures, primarily leg braces and energy-saving devices such as powered wheelchairs, plus pain relievers, sleep aids, etc. However, some post-polio patients claim to have found significant relief using large amounts of various food supplements, primarily L-carnitine, CoQ10, and d-ribose. Anecdotal evidence suggests that exercise can improve some cases.

Legg-Calve-Perthes syndrome is a degenerative disease of the hip joint, where a loss of bone mass leads to some degree of collapse of the hip joint, that is, to deformity of the ball of the femur and the surface of the hip socket. The disease is typically found in young children and small dogs, and it can lead to osteoarthritis in adults. It is the idiopathic avascular osteonecrosis of the capital femoral epiphysis of the femoral head. It is caused by an interruption to the blood supply of the head of the femur close to the hip joint. It is equivalent to adult avascular necrosis. It is also known as Perthes disease, ischemic necrosis of the hip, coxa plana, osteochondritis and avascular necrosis of the femoral head, or Legg-Perthes Disease or Legg-Calve-Perthes Disease (LCPD). Cause The direct cause is a reduction in blood flow to the joint, though what causes this is unknown. It is thought that the artery of the ligamentum teres femoris closes too early, not allowing time for the circumflex femoral artery to take over. Genetics does not appear to be a determining factor, though it may be involved. When the disease is genetic in origin, it typically runs along the male line. Some evidence suggests that parental smoking may be a factor, though this is not yet proven, or more recently that a deficiency of some blood factors used to disperse blood clots may lead to blockages in the vessels supplying the joint, but that, too, has not been proven. Signs and symptoms Symptoms are hip or groin pain, exacerbated by hip/leg movement. There is a reduced range of motion at the hip joint and a painful gait. There may be atrophy of thigh muscles from disuse and an inequality of leg length. In some cases, some activity can cause severe irritation or inflammation of the damaged area including standing, walking, running, kneeling, or stooping repeatedly for an extended period of time. The first signs are complaints of soreness from the child, which are often dismissed as growing pains, and limping or other guarding of the joint, particularly when tired. The pain is usually in the hip, though can also be felt in the knee (so-called 'referred pain'). In some cases, pain is felt in the unaffected hip and leg. This is due to the child favoring the injured side and placing the majority of the weight on the "good" leg. It is predominantly a disease of boys (around 4 in 5 cases). Whereas Perthes is generally diagnosed between 5 and 12 years of age, it has been diagnosed in children as young as infants. Typically the disease is only seen in one hip, bilateral perthes is seen in about 8-10% of children diagnosed. Diagnosis X-Rays of the hip joint are absolutely necessary. A bone scan may be useful in helping determine the extent of the avascular changes. A hip aspiration may be performed if there is suspicion of a septic arthritis. Diagnosis is made predominantly by X-ray study, together with physical examination (MRIs have also been found useful for judging the extent of the deformity). Sufferers typically have limited range of motion in their hip, particularly when rotating the joint. Treatment The goal of treatment is to avoid severe degenerative arthritis. Orthopedic assessment is crucial. Younger children have a better prognosis than older children. There are no drugs for treatment of Perthes. Analgesic medication may be given as necessary. Treatment has traditionally centered on removing pressure from the joint until the disease has run its course. Options have included bed rest and traction (to separate the femur from the pelvis and reduce wear), often for several months or even years. Braces and plaster casts were also popular, again to isolate the joint. Recent evidence suggests that these methods are not effective, and treatment seems to be moving towards a mixture of careful monitoring, physiotherapy, and surgical intervention when necessary. For older children, the distraction method been found to be a successful treatment by using an external fixator which relieves the hip from carrying the body's weight. This allows room for the top of the femur to regrow and shape better. Modern treatment focuses on removing pressure from the joint in concert with physiotherapy. Pressure is minimized on the hip through use of crutches or a cane, and the avoidance of running-based sports. Swimming is highly recommended - it allows exercise of the hip muscles with the full range of motion, while reducing the stress to a minimum. Physiotherapy treatment generally involves a daily series of exercises, with weekly meetings with a physiotherapist to monitor progress. These exercises focus on improving and maintaining a full range of motion of the femur within the hip socket. Performing these exercises during the healing process is essential to ensure that the femur and hip socket have a perfectly smooth interface. This will minimize the long term effects of the disease. Perthes is a long-term problem - treatment is aimed at minimizing damage while the disease runs its course, not at 'curing' the disease. As sufferers age problems in the knee and back can arise, as a result of the abnormal posture and stride adopted to protect the affected joint. The condition is also linked to arthritis of the hip and other joints, though this appears not to be an inevitable consequence. Hip replacements are relatively common as the already damaged hip suffers routine wear; this varies by individual, but generally is required any time after age 50. Incidence Perthes is a relatively unusual condition, with only 1 in 1200 children being affected. Caucasians are affected more frequently than other races, males are affected 4-5 times more often than females, suggesting a partial sex-linked genetic inheratance of the the syndrome. 1 in 100 male children of adults with Legg-Calvé-Perthes syndrome also exhibit the syndrome. It is most commonly seen in persons aged 3-12 years, with a median of 6 years of age. In the US, 1 in 1200 children younger than 15 years will have this disease while in the UK the incidence is higher, with Ireland having the highest percentage. It is also found in Latin Americans, Asians and Inuit Indians. Prognosis Children younger than 6 or 7 have the best prognosis since they have time for the dead bone to revascularize and remodel. Children that have been diagnosed with Perthes' Disease after the age of 10 are at a very high risk of developing osteoarthritis and Coxa Magna.

Susac's syndrome (Retinocochleocerebral Vasculopathy) is a microangiopathy characterized by encephalopathy, branch retinal artery occlusions and hearing loss. It is caused by the immune system attacking healthy tissue, and can lead to mental disorders. Description Susac's Syndrome is named after Dr John Susac, who first spotted the problem in 1975. Sufferers often experience a personality change and develop bizarre and paranoid behaviour. Their speech can be affected, and many experience unrelenting and intense headaches and migraines, some form of hearing loss, and impaired vision. The problem usually corrects itself, but this can take up to five years. In some cases, subjects can become confused, and believe they are living in a time from their memory once again. According to Michael Hahn, a US Expert on the subject, thinking you live in a foreign country happens in a "fair percentage" of cases. Only 200 people in the world have Susac's Syndrome. Treatment There are a few case reports of the retinopathy due to Susac's disease responding to hyperbaric oxygen treatment with significant improvement of acuity. There is another report of the syndrome recurring after 18 years.(Pub Med reference). Treatment regiments proposed empirically include IVIG, high dose IV steroids. There are characteristic MRI saggital FLAIR appearances described in the radiologic literature.

Trigeminal neuralgia, or Tic Douloureux, is a neuropathic disorder of the trigeminal nerve that causes episodes of intense pain in the eyes, lips, nose, scalp, forehead, and jaw. Trigeminal neuralgia is considered by many to be among the most painful of conditions and has been labeled the suicide disease, due to the significant numbers of people taking their own lives because they were unable to have their pain controlled with medications or surgery. An estimated one in 15,000 people suffers from trigeminal neuralgia, although numbers may be significantly higher due to frequent misdiagnosis. It usually develops after the age of 40, although there have been cases with patients being as young as three years of age. Pathophysiology The trigeminal nerve is the fifth cranial nerve, a mixed cranial nerve responsible for sensory data such as tactition (pressure), thermoception (temperature), and nociception (pain) originating from the face above the jawline; it is also responsible for the motor function of the muscles of mastication, the muscles involved in chewing but not facial expression. Several theories exist to explain the possible causes of this pain syndrome. Among the structural causes, damage to the myelin sheath of this nerve causes the electrical impulses traveling along it to be erratic or excessive, activating pain regions or deactivating pain inhibitory regions in the brain. The damage may be caused by an aneurysm (an outpouching of a blood vessel) or abnormally coursing artery compressing the nerve, most frequently at the area of its cerebellopontine nerve root; the superior cerebellar artery has been an oft-cited culprit. Two to four percent of patients with TN, usually younger, have evidence of multiple sclerosis, which may damage either the trigeminal nerve or other related parts of the brain. Trigeminal Neuralgia may also be caused by a tumor, an arachnoid cyst in the cerebellopontine angle, or a traumatic event such as a car accident or even a tongue piercing.When there is no structural cause, the syndrome is called idiopathic. Postherpetic Neuralgia, which occurs after shingles, may cause similar symptoms if the trigeminal nerve is affected. Symptoms The episodes of pain occur paroxysmally, or suddenly. A number of patients develop TN after a root canal and may go repeatedly to dentists as the pain can radiate through the teeth. Extractions do not help for the pain is originating in the Trigeminal Nerve and not in an individual nerve of a tooth. Because of this difficulty, many patients may go untreated for long periods of time before a correct diagnosis is made. To describe the pain sensation, patients describe a trigger area on the face, so sensitive that touching or even air currents can trigger an episode of pain. It affects lifestyle as it can be be triggered by common activities in a patient's daily life, such as toothbrushing. Breezes, whether cold or warm, wintry weather or even light touching such as a kiss can set off an attack. The attacks are said to feel like stabbing electric shocks or shooting pain that becomes intractable. Individual attacks affect one side of the face at a time, last several seconds or longer, and repeats up to hundreds of times throughout the day, or may go on for periods as long as several months or years. 3-5% of cases are bilateral, and attacks may increase in frequency or severity over time. A great deal of patients develop the pain in one branch, then over years the pain will travel through the other nerve branches. Signs of this can be seen in males who may deliberately miss an area of their face when shaving, in order to avoid triggering an episode. Although trigeminal neuralgia is not fatal, successive recurrences may be incapacitating, and the fear of provoking an attack may make sufferers reluctant to engage in normal activities. There is a variant of trigeminal neuralgia called "atypical trigeminal neuralgia". In some cases of atypical trigeminal neuralgia, the sufferer experiences a severe, relentless underlying pain similar to a migraine in addition to the stabbing pains. This variant is sometimes called "trigeminal neuralgia, type 2", based on a recent classification of facial pain. In other cases, the pain is stabbing and intense, but may feel like burning or prickling, rather than a shock. Sometimes, the pain is a combination of shock-like sensations, migraine-like pain, and burning or prickling pain. It can also feel as if a boring piercing pain is unrelenting. Treatment There is no cure for trigeminal neuralgia, but it can be treated with anticonvulsants such as carbamazepine (Tegretol), phenytoin, or gabapentin (Neurontin). Anticonvulsant effects may be potentiated with an adjuvant such as baclofen or clonazepam. Baclofen may also help some patients eat more normally if jaw movement tends to aggravate the symptoms. Pain may be treated long-term with an opioid such as methadone in some patients, but due to the nature of the neuralgia, traditional analgesics typically have negligible effect. Low doses of some antidepressants such as nortriptyline can also be effective in treating neuropathic pain. A new treatment medication is Lyrica .Botox, can be is injected neurologically by a physician, and has been found helpful using the "migraine" pattern adapted to the patient's special needs. Many patients can not tolerate medications for years, and an alternate treatment is to take a drug such as gabapentin and place it in an externally applied cream base by a pharmacist who compounds drugs. Surgery may be recommended, either to relieve the pressure on the nerve or to damage it further to prevent the transmission of pain. Surgery is effective in more than 75% of people with classic trigeminal neuralgia. The nerve can also be damaged to prevent pain signal transmission using a fine beam of radiation, so-called gamma knife. This is used especially for those people who are medically unfit for a long general anaesthetic, or who are taking medications for prevention of blood clotting (e.g., warfarin). Excellent success rates using a cost effective percutaneous surgical procedure known as balloon compression have been reported. This technique has been helpful in treating the elderly for whom surgery may not be an option due to coexisting health conditions. Balloon compression is also the best choice for patients who have ophthalmic nerve pain or have experienced recurrent pain after microvascular decompression (MVD). Alternative and Complementary health care treatments such as Chiropractic or Acupuncture are sometimes used either in combination with drugs or alone to help manage pain caused by this disorder. Electric and Magnetic Field or EMF for short is a new treatment being used to treat Trigeminal Neuralgia. Atypical trigeminal neuralgia is more difficult to treat, both with medications and surgery. Surgery may result in areas of numbness bothersome to the patient and lead occasionally to "anesthesia dolorosa," which is numbness with intense pain. It should, however, be noted that many people do find dramatic relief with minimal side effects from the various surgeries that are available. Capsaicin can be helpful in short term temporary pain control of trigeminal neuralgia. It works by over stimulating the nerve endings at the site of current trip points on the face. Some patients have found relief with keeping the face covered to prevent breezes, the use of Alpha Stim Technology, Hot Tubs, Myofacial release of any spasms in the muscles by a trained Physical Therapist. Some have tried Cranial Sacral Therapy. In one case of trigeminal neuralgia associated with tongue-piercing, the condition resolved after the jewelry was removed.

Chronic Fatigue Syndrome (CFS), also known as chronic fatigue and immune dysfunction syndrome (CFIDS), post-viral fatigue syndrome, and myalgic encephalomyelitis (ME), is a chronic illness characterized by profound fatigue that is not helped by bed rest and is not directly caused by other illnesses or conditions. CFS has no known cause, and current research indicates there are probably multiple triggers such as a flu-like illness, physical trauma, emotional distress, and immunological conditions that result in the same set of symptoms. There are currently no diagnostic tests to determine if a patient is suffering from CFS. Once other possible diseases or causes are ruled out, a patient is determined to have CFS if they meet two criteria: 1) have severe chronic fatigue of six months or longer duration with other known medical conditions excluded by clinical diagnosis; and 2) concurrently have four or more of the following symptoms: substantial impairment in short-term memory or concentration; sore throat; tender lymph nodes; muscle pain; multi-joint pain without swelling or redness; headaches of a new type, pattern or severity; unrefreshing sleep; and post-exertional malaise lasting more than 24 hours. CFS affects more than one million people in the United States, and is spread across all demographics. Women are more likely than men to suffer from CFS, and adults are more likely than children to suffer from the condition. There is no known cure for CFS, so treatment is designed to alleviate symptoms. Medications may be prescribed for pain, sleep problems, flu-like symptoms, anxiety, and depression. Patients may find that therapy and altering their lifestyles around food and activity level may help as well.

Fibromyalgia (FMS) is a chronic disorder that causes widespread muscle pain and fatigue. The most common sites of pain and tissue tenderness are in the neck, shoulders, back, hips, arms, and legs, but any body part can be affected. Patients suffering from FMS may also experience symptoms such as problems sleeping, headaches, tingling in hands and feet, impaired memory or concentration, anxiety, and skin sensitivity. The cause of Fibromyalgia is not known, though research indicates that it is due to abnormal sensory processing in the central nervous system. It is estimated that 2-5% of people in the United States suffer from FMS, and it is spread across all demographics. Women are more likely than men to suffer from FMS, and adults are more likely than children to suffer from the condition. People who have Rheumatoid Arthritis or Lupus are more likely to also suffer from FMS. There is no known cure for FMS, so treatment is designed to alleviate symptoms. Medications may be prescribed for pain, sleep problems, anxiety, and depression. Patients may find that alternative treatments, nutrition, relaxation techniques and exercise help as well. Fibromyalgia was formerly known as fibrositis.

Menopause occurs as the ovaries stop producing estrogen, causing the reproductive system to gradually shut down. As the body adapts to the changing levels of natural hormones, vasomotor symptoms such as hot flashes and palpitations, psychological symptoms such as increased depression, anxiety, irritability, mood swings and lack of concentration, and atrophic symptoms such as vaginal dryness and urgency of urination appear. Together with these symptoms, the woman may also have increasingly scanty and erratic menstrual periods. The term menopause comes from the Greek roots 'meno-' (month) and 'pausis' (a pause, a cessation). Technically, menopause refers to the cessation of menses; whereas the gradual process through which this occurs, which typically takes a year but may last as little as six months or more than five years, is known as climacteric. Very early symptoms that precede menopause, referred to as perimenopause, typically begin in the late 30s. Popular use replaces climacteric with menopause. A natural or physiological menopause is that which occurs as a part of a woman's normal aging process. However, menopause can be surgically induced by such procedures as hysterectomy (when this procedure includes oophorectomy, removal of the ovaries). The average onset of menopause is 50.5 years, but some women enter menopause at a younger age, especially if they have had cancer or another serious illness and undergone chemotherapy. Premature menopause (or premature ovarian failure) is defined as menopause occurring before the age of 40, and occurs in 1% of women. Other causes of premature menopause include autoimmune disorders, thyroid disease, and diabetes mellitus. Premature menopause is diagnosed by measuring the levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH); the levels of these hormones will be higher if menopause has occurred. Rates of premature menopause have been found to be significantly higher in both fraternal and identical twins; approximately 5% of twins reach menopause before the age of 40. The reasons for this are not completely understood. Transplants of ovarian tissue between identical twins have been successful in restoring fertility. Post-menopausal women, especially Caucasian women of European descent, are at increased risk of osteoporosis. One reason for this risk is the dramatic change in female sex hormone levels that occurs: These hormones play a major role in female skeletal development and changes lead to an acceleration of bone mass loss rate. Unlike humans, other animals rarely experience menopause. This may simply be due to their comparatively shorter lifespans. However, recent studies have shown menopause in gorillas, with an average age of 44 at onset. The Grandmother hypothesis considers that the menopause arose in human evolution, because later life infertility could actually confer an evolutionary advantage. This acts through the diversion of a woman's care from any additional new offspring of her own, to care for the woman's genes present in her existing children and grandchildren.

Microphthalmia is a developmental disorder of the eye in which one (unilateral microphthalmia) or both (bilateral microphthalmia) eyes are abnormally small and have anatomic malformations. It is different from nanophthalmos in which the eye is small in size but has no anatomical alterations.

Cushing's syndrome (also called hypercortisolism or hyperadrenocorticism) is a rare endocrine disorder caused by high levels of cortisol in the blood. Cortisol is released from the adrenal gland in response to ACTH being released from the pituitary gland. High levels of cortisol can also be induced by the administration of drugs. Cushings disease, or more properly termed secondary hyperadrenocorticism, is very similar to Cushing's syndrome in that all physiologic manifestations of the conditions are the same. Both diseases are characterized by elevated levels of cortisol in the blood, but the cause of elevated cortisol differs between the diseases. Cushing's disease specifically refers to a tumor in the pituitary gland that stimulates excessive release of cortisol from the adrenal gland by releasing large amounts of ACTH. It was discovered by American physician, surgeon and endocrinologist Harvey Cushing (1869-1939) and reported by him in 1932. Cushing's syndrome is also a relatively common condition in domestic dogs in which causes are the same as the syndrome in humans, and in horses, where it leads to a long, tightly curled coat which does not shed and leads to weight loss and laminitis.

Diabetes insipidus (DI) is a disease characterized by excretion of large amounts of severely diluted urine, which cannot be reduced when fluid intake is reduced. It denotes inability of the kidney to concentrate urine. DI is caused by a deficiency of antidiuretic hormone (ADH), also known as vasopressin, or by an insensitivity of the kidneys to that hormone. Signs and symptoms Excessive urination and extreme thirst (especially for cold water) are typical for DI. Symptoms of diabetes insipidus are quite similar to those of untreated diabetes mellitus, with the distinction that the urine is not sweet and there is no hyperglycemia (elevated blood glucose). Blurred vision is a rarity. The extreme urination continues throughout the day and the night. In children, DI can interfere with appetite, eating, weight gain, and growth as well. They may present with fever, vomiting, or diarrhea. Adults with untreated DI may remain healthy for decades as long as enough water is drunk to offset the urinary losses. However, there is a continuous risk of dehydration. Diagnosis In order to distinguish DI from other causes of excess urination, blood glucose, bicarbonate and calcium need to be tested. Electrolytes can show substantial derangement; hypernatremia (excess sodium levels) are common in severe cases. Urinalysis shows low electrolyte levels, and measurement of urine osmolarity (or specific gravity) is generally low. A fluid deprivation test helps determine whether DI is caused by: 1. excessive intake of fluid 2. a defect in ADH production 3. a defect in the kidneys' response to ADH This test measures changes in body weight, urine output, and urine composition when fluids are withheld. Sometimes measuring blood levels of ADH during this test is also necessary. To distinguish between the main forms, desmopressin stimulation is also used; desmopressin can be taken by injection, a nasal spray, or a tablet. While taking desmopressin, a patient should drink fluids or water only when thirsty and not at other times, as this can lead to sudden fluid accumulation in central nervous system. If desmopressin reduces urine output and increases osmolarity, the pituitary production of ADH is deficient, and the kidney responds normally. If the DI is due to renal pathology, desmopressin does not change either urine output or osmolarity. If central DI is suspected, testing of other hormones of the pituitary, as well as magnetic resonance imaging (MRI), is necessary to discover if a disease process (such as a prolactinoma, or histiocytosis, syphilis, tuberculosis or other tumor or granuloma) is affecting pituitary function. Habit drinking (in its severest form termed psychogenic polydipsia) is the most common imitator of diabetes insipidus at all ages. While many adult cases in the medical literature are associated with mental disorders, most patients with habit polydipsia have no other detectable disease. The distinction is made during the water deprivation test, as some degree of urinary concentration above isosmolar is eventually obtained before the patient becomes dehydrated. Pathophysiology Electrolyte and volume homeostasis is a complex mechanism that balances the body's requirements for blood pressure and the main electrolytes sodium and potassium. In general, electrolyte regulation precedes volume regulation. When the volume is severely depleted, however, the body will retain water at the expense of deranging electrolyte levels. The regulation of urine production occurs in the hypothalamus, which produces antidiuretic hormone (ADH or vasopressin) in the supraoptic and paraventricular nuclei. After synthesis, the hormone is transported in neurosecretory granules down the axon of the hypothalamic neuron to the posterior lobe of the pituitary gland where it is stored for later release. In addition, the hypothalamus regulates the sensation of thirst in the ventromedial nucleus by sensing increases in serum osmolarity and relaying this information to the cortex. The main effector organ for fluid homeostasis is the kidney. ADH acts by increasing water permeability in the collecting ducts, specifically it acts on proteins called aquaporins which open to allow water into the collecting duct cells. This increase in permeability allows for reabsorption of water into the bloodstream, thus concentrating the urine. There are several forms of DI: * Central diabetes insipidus is due to damage to the hypothalamus or pituitary due to a tumor, stroke, neurosurgery or some rather rare causes (which include hemochromatosis, sarcoidosis, histiocytosis, diseases that can form masses in the vicinity like a tuberculoma or syphilis and some genetic disorders). If the hypothalamus is damaged, the feeling of thirst may be completely absent. * Nephrogenic diabetes insipidus is due to the inability of the kidney to respond normally to ADH. There are hereditary causes (90% are due to mutations of the ADH V2 receptor, and 10% mutations of the aquaporin 2 water channel), but these are rare (incidence is around 4 per million live births). Most are male, because V2 receptor mutations are x-linked recessive defects. More common are acquired forms of NDI, which occur as a side-effect to some medications (such as lithium citrate and amphotericin B), as well as in polycystic kidney disease (PKD) and sickle-cell disease, and electrolyte disturbances such as hypokalaemia and hypercalcaemia. In some cases, no cause is found. * Dipsogenic DI is due to a defect or damage to the thirst mechanism, which is located in the hypothalamus. This defect results in an abnormal increase in thirst and fluid intake that suppresses ADH secretion and increases urine output. Desmopressin is ineffective, and can lead to fluid overload as the thirst remains. * Gestational DI only occurs during pregnancy. While all pregnant women produce vasopressinase in the placenta, which breaks down ADH, this can assume extreme forms in GDI. Most cases of gestational DI can be treated with desmopressin. In rare cases, however, an abnormality in the thirst mechanism causes gestational DI, and desmopressin should not be used. Treatment Central DI and gestational DI respond to desmopressin. In dipsogenic DI, desmopressin is not usually an option. Desmopressin will be ineffective in nephrogenic DI. Instead, the diuretic hydrochlorothiazide (HCT or HCTZ) or indomethacin can improve NDI; HCT is sometimes combined with amiloride to prevent hypokalemia. Again, the patient should be reminded only to drink fluids when thirsty, and not at other times.

neural condition characterized by a severe recurrent vascular headache, usually on one side of the head, often accompanied by nausea, vomiting, and photophobia, sometimes preceded by sensory disturbances; triggers include allergic reactions, excess carbohydrates or iodine in the diet, alcohol, bright lights or loud noises.

Alzheimer's disease (AD), also known simply as Alzheimer's, is a neurodegenerative disease characterized by progressive cognitive deterioration together with declining activities of daily living and neuropsychiatric symptoms or behavioral changes. It is the most common type of dementia. The most striking early symptom is the loss of memory (amnesia), which usually manifests as minor forgetfulness that becomes steadily more pronounced with illness progression, with relative preservation of older memories. As the disorder progresses, cognitive (intellectual) impairment extends to the domains of language (aphasia), skilled movements (apraxia), recognition (agnosia), and those functions (such as decision-making and planning) closely related to the frontal and temporal lobes of the brain as they become disconnected from the limbic system, reflecting extension of the underlying pathological process. This pathological process consists principally of neuronal loss or atrophy, principally in the temporoparietal cortex, but also in the frontal cortex, together with an inflammatory response to the deposition of amyloid plaques and neurofibrillary tangles. The ultimate cause of the disease is unknown. Genetic factors are known to be important, and dominant mutations in three different genes have been identified that account for a much smaller number of cases of familial, early-onset AD. For the more common form of late onset AD (LOAD), ApoE is the only repeatibly confirmed susceptibility genes for AD. In 2007, evidence suggested a possible association between SORL1 alleles and late onset of AD.

Anxiety is a mental health disorder characterized by feelings of worry, anxiety, or fear that are strong enough to interfere with one’s daily activities.

Fragile X syndrome is a syndrome of X-linked mental retardation. Boys with the syndrome may have large testes (macroorchidism), prognathism, hypotonia and autism, and a characteristic but variable face with large ears, long face, high-arched palate, and malocclusion. Additional abnormalities may include lordosis, heart defect, pectus excavatum, flat feet, shortening of the tubular bones of the hands, and joint laxity. Females who have one fragile chromosome and one normal X chromosome may range from normal to mild manifestations of the fragile X syndrome. The fragile X syndrome has an estimated incidence of 1 in 3600 males and 1 in 4,000-6,000 females. History Martin and Bell in 1943 described a pedigree of X-linked mental retardation, without considering the macroorchidism. In 1969 Herbert Lubs first sighted an unusual "marker X chromosome" in association with mental retardation. In 1970 Frederick Hecht coined the term "fragile site" (in connection with a heritable fragile site on another chromosome) and soon thereafter the marker X became known as the fragile X. In 1977 Grant Sutherland described a special kill culture method that permits the cytogenetic diagnosis of the fragile X chromosome. This was an extraordinarily important technical advance because it provided a reliable means of detection of the fragile X. Causes X-linked recessive inheritance The fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome. Mutation at that site is found in 1 out of about every 2000 males and 1 out of about every 259 females. (Incidence of the disease itself is about 1 in every 4000 females.) Normally, the FMR1 gene contains between 6 and 55 repeats of the CGG codon (trinucleotide repeats). In people with the fragile X syndrome, the FMR1 allele has over 230 repeats of this codon. Expansion of the CGG repeating codon to such a degree results in a methylation of that portion of the DNA, effectively silencing the expression of the FMR1 protein. This methylation of the FMR1 locus in chromosome band Xq27.3 is believed to result in constriction of the X chromosome which appears 'fragile' under the microscope at that point, a phenomenon that gave the syndrome its name. Mutation of the FMR1 gene leads to the transcriptional silencing of the fragile X-mental retardation protein, FMRP. In normal individuals, FMRP binds and facilitates the translation of a number of essential neuronal RNAs. In fragile X patients, however, these RNAs are not translated into proteins. Transmission of the Fragile X Technically, fragile X syndrome is an X-linked dominant condition with reduced penetrance. Because males normally have only one copy of the X chromosome, those males with significant trinucleotide expansion at the FMR1 locus are symptomatic. They are intellectually disabled and may show various physical features of the fragile X syndrome. Females have two X chromosomes and thus have double the chance of having a working FMR1 allele. Females carrying one X chromosome with an expanded FMR1 gene can have some signs and symptoms of the disorder or be normal. Although the extra X chromosome can serve as a backup, only one X chromosome is active at a time due to X-inactivation. Males with the fragile X cannot transmit it to any of their sons (since males contribute a Y chromosome, not an X, to their male offspring), but will transmit it to all of their daughters, as males contribute their X to all of their daughters. Females carrying one copy of the fragile X can transmit it to their sons or daughters; in this case each child has a 50% chance of inheriting the fragile X. Sons who receive the fragile X are at high risk of intellectual disability. Daughters who receive the fragile X may appear normal or they may be intellectually disabled, usually to a lesser degree than boys with the syndrome. Symptoms Prominent characteristics of the syndrome include an elongated face, large or protruding ears, large testicles (macroorchidism), and low muscle tone. Aside from intellectual disability (mental retardation), prominent characteristics of the syndrome include an elongated face, large or protruding ears, flat feet, large (macroorchidism), and low muscle tone. Behavioral characteristics may include stereotypic movements (e.g., hand-flapping) and atypical social development, particularly shyness and limited eye contact. Some individuals with the fragile X syndrome also meet the diagnostic criteria for autism. While full mutation males tend to present with severe intellectual disability, the symptomology of full mutation females runs the gamut of minimally affected to severe intellectual disability, which may explain why females are underdiagnosed relative to males. Diagnosis Fragile X syndrome was originally diagnosed by culturing cells in a folate deficient medium and then assessing the cultures for X-chromosome breakage by cytogenetic analysis of the long arm of the X chromosome. This technique proved unreliable for both diagnosis and carrier testing. The fragile X abnormality is now directly determined by analysis of the number of CGG repeats and their methylation status using restriction endonuclease digestion and Southern blot analysis. Treatment and current research Recent studies have focused on a number of critical areas. The role of FMRP's RNA partners, many of which have now been validated through in vitro assays, is of primary importance. Also being examined is the function the various domains of FMRP, an RNA-binding protein, which is still relatively unknown. While there is no current cure for the syndrome, there is hope that further understanding of its underlying causes would lead to new therapies. Currently, the syndrome can be treated through behavioral therapy, special education, medication, and when necessary, treatment of physical abnormalities. Persons with the fragile X syndrome in their family histories are advised to seek genetic counseling to assess the likelihood of having children who are affected, and how severe any impairments may be in affected descendants.

Kartagener syndrome also known as Primary Ciliary Dyskinesia or immotile ciliary syndrome is a rare autosomal recessive genetic disorder caused by a defect in the action of cilia lining the respiratory tract. Specifically, it is a defect in dynein protein arms within the ciliary structure. It is characterized by the triad of situs inversus, chronic sinusitis, and bronchiectasis. The main consequence of impaired ciliary function is reduced or absent mucus clearance in the lungs, and susceptibility to chronic, recurrent respiratory infections, including sinusitis, bronchitis, pneumonia, and otitis media. Susceptibility to these infections can be drastically reduced by an early diagnosis, as treatment with various chest physiotherapy techniques during childhood helps prevent the lungs being damaged or colonised by infection during this vulnerable period. Many patients experience hearing loss and show symptoms of glue ear which demonstrate variable responsiveness to the insertion of myringotomy tubes or grommets. A poor sense of smell accompanies high mucus production in the sinuses. Infertility is common, but IVF techniques have been successful for some parents with PCD. Clinical progression of the disease is variable with lung transplantation required in severe cases. For most patients, aggressive measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial super infections are recommended. Although the true incidence of the disease is unknown, it is estimated to be 1 in 32,000, although the actual incidence may be as high as 1 in 15000. Sagittal CT image showing "tree in bud" appearance of mucous impaction in distal small airways related to primary ciliary dyskinesia Sagittal CT image showing "tree in bud" appearance of mucous impaction in distal small airways related to primary ciliary dyskinesia Causes The dysfunction of the cilia begins during the embryologic phase of development. Since the cilia aid in the movement of growth factors resulting in the normal rotation of the internal organs during early embryological development, 50% of these individuals will develop situs inversus, as the laterality of the internal organs is determined by chance. CT image showing dilated and thickened medium sized airways (bronchiectaisis)in a patient with Kartagener syndrome CT image showing dilated and thickened medium sized airways (bronchiectaisis)in a patient with Kartagener syndrome Oblique sagittal CT image showing lower lobe cylinidrical bronchiectasis in the same patient Oblique sagittal CT image showing lower lobe cylinidrical bronchiectasis in the same patient History The classical triad was first described by A. K. Zivert in 1904 while Kartagener published his first report in 1933.

Infertility most commonly refers to a couple’s inability to become pregnant after 1 year of unprotected intercourse. In addition, infertility is used to describe a woman’s repeated, consecutive inability to carry a baby to term. Primary infertility refers to a couple that has never had a child and has difficulty getting pregnant. Secondary infertility refers to an infertile person or couple that has had one or more children in the past, but is having trouble getting pregnant again. The American Society for Reproductive Medicine reports that 5.3 million Americans, or 9 percent of the reproductive age population suffer from infertility. And of the 80% of cases with a diagnosed cause, about half are based at least partially on male problems.

# Noonan Syndrome Noonan syndrome is a disease passed down through families (inherited) that causes abnormal development in many parts of the body. It used to be called Turner-like syndrome. ## Causes Noonan syndrome is linked to defects in several genes. Problems with the genes cause certain proteins involved in growth and development to become overactive. Noonan syndrome is an autosomal dominant condition. This means only one parent has to pass down the faulty gene for the baby to have the syndrome. However, some cases may not be inherited. ## Symptoms * Delayed puberty * Down-slanting or wide-set eyes * Hearing loss (varies) * Low-set or abnormally shaped ears * Mild mental retardation (only in about 25% of cases) * Sagging eyelids (ptosis) * Short stature * Small penis * Undescended testicles * Unusual chest shape (usually a sunken chest called pectus excavatum) * Webbed and short-appearing neck ## Tests The health care provider will perform a physical exam. This may show signs of congenital heart disease (especially pulmonary stenosis, occasionally ASD). Tests depend on the symptoms, but may include: * Platelet count * Blood clotting factor test * EKG, chest x-ray, or echocardiogram * Hearing tests * Genetic testing can help diagnose this syndrome. ## Treatment There is no specific treatment. Your doctor will suggest treatment to relieve or manage symptoms. Growth hormone has been used successfully to treat short stature in some persons with Noonan syndrome. ## Complications * Buildup of fluid in tissues of body (lymphedema, cystic hygroma) * Failure to thrive in infants * Low self-esteem * Male infertility in those with both testes undescended * Problems with the structure of the heart * Short stature * Social difficulties related to physical symptoms ## Prevention Couples with a family history of Noonan syndrome may want to consider genetic counseling before having children.

# Retroperitoneal Fibrosis Retroperitoneal fibrosis is a rare disorder in which the tubes (ureters) that carry urine from the kidneys to the bladder are blocked by a mass in the area behind the stomach and intestines. ## Causes, incidence, and risk factors Retroperitoneal fibrosis is a rare disorder that occurs when extra fibrous tissue forms in the area behind the stomach and intestines. The excess tissue forms a mass (or masses) that can block the tubes that carry urine from the kidney to the bladder. Doctors don't know why these masses form. It is most common in people aged 40 - 60. Men are twice as likely to develop the condition as women. ## Symptoms Early symptoms: * Dull pain in the abdomen that increases with time * Pain and change of color in the legs (due to decreased blood flow) * Swelling of one leg Later symptoms: * [Decreased urine output](/pages/symptoms/oliguria) * No urine output (anuria) * Nausea, vomiting, changes in thinking caused by kidney failure and build-up of toxic chemicals in the blood * Severe abdominal pain with hemorrhaging (due to death of intestinal tissue) ## Signs and tests [Abdominal CT scan](/pages/treatments/computerized-axial-tomography-ct-scan) is the best method to reveal a retroperitoneal mass. Other tests that can help diagnose this condition include: * BUN and creatinine blood tests * Intravenous pyelogram (IVP) * [Kidney ultrasound](/pages/treatments/diagnostic-ultrasound-of-urinary-system) * MRI of the abdomen * A biopsy of the mass may also be done to rule out cancer. ## Treatment Powerful anti-inflammatory medicines called corticosteroids are tried first. Some doctors also use a drug called tamoxifen to treat this condition. If corticosteroid treatment doesn't work, a biopsy should be done to confirm the diagnosis. If confirmed, other medicines to suppress the immune system are usually prescribed. When medicine does not work, surgery and stents (draining tubes) are needed. ## Expectations (prognosis) Prognosis depends on the extent of the fibrosis and the amount of damage to the kidneys. The kidney damage may be temporary or permanent. ## Complications The disorder may lead to: * Chronic bilateral obstructive uropathy * Chronic kidney failure * Chronic unilateral obstructive uropathy

Fibromuscular Dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. A characteristic “string of beads” pattern caused by the alternating narrowing and enlarging of the artery can block or reduce blood flow to the brain, causing a stroke or mini-stroke. Some patients experience no symptoms of the disease while others may have high blood pressure, dizziness or vertigo, chronic headache, intracranial aneurysm, ringing in the ears, weakness or numbness in the face, neck pain, or changes in vision. FMD is most often seen in persons age 25 to 50 years and affects women more often than men. More than one family member may be affected by the disease. The cause of FMD is unknown. An angiogram can detect the degree of narrowing or obstruction of the artery and identify changes such as a tear (dissection) or weak area (aneurysm) in the vessel wall. FMD can also be diagnosed using computed tomography, magnetic resonance imaging, or ultrasound.

Lupus is a very serious, chronic (life-long), inflammatory, autoimmune disease. Autoimmune is a class of diseases that share one characteristic, they all involve the immune system turning against the body. Our immune systems are designed to fight off foreign invaders like bacteria and viruses. With autoimmune diseases like Lupus, the immune system sees normal healthy cells as foreign invaders and attacks them. This causes the body to respond naturally with inflammation to expel the invader. This inflammation is what causes the pain, and discomfort as well as sometimes permanent damage to the cells. There are several different kinds of Lupus: Systemic Lupus Erythematosus (SLE) is the form of the disease most people are referring to when they say Lupus. It is the most common. The word systemic means the disease can affect the whole body including the skin, joints, tendons, blood vessels, muscles, organs, etc. Each Lupus patient is different some have a more mild form of SLE whole others may have severe, life-threatening disease. Life Threatening Lupus is defined as SLE affecting one or more vital organ such as the heart, lungs, kidneys, or liver. Discoid Lupus Erythematosus is a chronic skin disorder in which a red, raised rash appears on the face, scalp or elsewhere. The rash may last for days or even years and it also may recur. The raised areas may become thick and scaly and may cause scarring. Subacute Cutaneous Lupus Erythematosus is skin lesions on parts of the body that are exposed to the sun. These lesions do not cause scarring. Drug-induced Lupus is a kind of Lupus that is cause by medications. The symptoms are similar to SLE and usually go away after the medication is discontinued. Lupus in Overlap w/ other Connective Tissue Diseases is Lupus with one of the following other diseases also: Rheumatoid Arthritis, Polymyositis-Dermatomyositis, Scleroderma, Sjogren's Syndrome, various forms of Vasculitis. Neonatal Lupus is a form of Lupus found in newborn babies born to mothers with Lupus, Sjogren's, or no disease at all. It is very important that women with Lupus be closely monitored by a physician during pregnancy. There is no cure for Lupus at this time. We also do not know what causes Lupus. Genetics, drugs, hormones, environmental factors (UV light, viruses), etc. are all possible contributing factors to SLE. People with a family member that has an autoimmune disease are far more likely to develop SLE than the general population. Women are also far more likely to develop the disease than men so hormonal factors are being studied.

Multiple myeloma (also known as MM, myeloma, plasma cell myeloma, or as Kahler's disease after Otto Kahler) is a type of cancer of plasma cells which are immune system cells in bone marrow that produce antibodies. Its prognosis, despite therapy, is generally poor, and treatment may involve chemotherapy and stem cell transplant. It is part of the broad group of diseases called hematological malignancies. Because many organs can be affected by myeloma, the symptoms and signs vary greatly. A mnemonic sometimes used to remember the common tetrad of multiple myeloma is CRAB - C = Calcium (elevated), R =Renal failure, A = Anemia, B = Bone lesions.[1] Myeloma has many possible symptoms, and all symptoms may be due to other causes. They are presented here in decreasing order of incidence. Bone pain Myeloma bone pain usually involves the spine and ribs, and worsens with activity. Persistent localized pain may indicate a pathological fracture. Involvement of the vertebrae may lead to spinal cord compression. Myeloma bone disease is due to proliferation of tumor cells and release of IL-6, also known as osteoclast activating factor (OAF), which stimulates osteoclasts to break down bone. These bone lesions are lytic in nature and are best seen in plain radiographs, which may show a "punched-out" resorptive lesions. The breakdown of bone also leads to release of calcium into the blood, leading to hypercalcemia and its associated symptoms. Infection The most common infections are pneumonias and pyelonephritis. Common pneumonia pathogens include S pneumoniae, S aureus, and K pneumoniae, while common pathogens causing pyelonephritis include E coli and other gram-negative organisms. The increased risk of infection is due to immune deficiency resulting from diffuse hypogammaglobulinemia, which is due to decreased production and increased destruction of normal antibodies. Renal failure Renal failure may develop both acutely and chronically. It is commonly due to hypercalcemia (see above). It may also be due to tubular damage from excretion of light chains, which can manifest as the Fanconi syndrome (type II renal tubular acidosis). Other causes include glomerular deposition of amyloid, hyperuricemia, recurrent infections (pyelonephritis), and local infiltration of tumor cells. Anemia The anemia found in myeloma is usually normocytic and normochromic. It results from the replacement of normal bone marrow by infiltrating tumor cells and inhibition of normal red blood cell production (hematopoiesis) by cytokines. Neurological symptoms Common problems are weakness, confusion and fatigue due to hypercalcemia. Headache, visual changes and retinopathy may be the result of hyperviscosity of the blood depending on the properties of the paraprotein. Finally, there may be radicular pain, loss of bowel or bladder control (due to involvement of spinal cord leading to cord compression) or carpal tunnel syndrome and other neuropathies (due to infiltration of peripheral nerves by amyloid). It may give rise to paraplegia in late presenting cases.

Hepatitis C is a blood-borne, infectious, viral disease that is caused by a hepatotropic virus called Hepatitis C virus (HCV). The infection can cause liver inflammation that is often asymptomatic, but ensuing chronic hepatitis can result later in cirrhosis (fibrotic scarring of the liver) and liver cancer. The hepatitis C virus (HCV) is spread by blood-to-blood contact with an infected person's blood. The symptoms can be medically managed, and a proportion of patients can be cleared of the virus by a long course of anti-viral medicines. Although modification of diet and early medical intervention are helpful, people with HCV infection often experience mild symptoms, and consequently do not seek treatment. An estimated 150-200 million people worldwide are infected with hepatitis C. In the U.S., those with a history of intravenous drug use, tattoos, or who have been exposed to blood via unsafe sex or social practices are high risk for this disease. Hepatitis C is the leading cause of liver transplant in the United States. The hepatitis C virus is one of six known hepatitis viruses: A, B, C, D, E, G. Acute Hepatitis C Acute hepatitis C refers to the first 6 months after infection with HCV. Between 60% to 70% of people infected develop no symptoms during the acute phase. In the minority of patients who experience acute phase symptoms, they are generally mild and nonspecific, and rarely lead to a specific diagnosis of hepatitis C. Symptoms of acute hepatitis C infection include decreased appetite, fatigue, abdominal pain, jaundice, itching, and flu-like symptoms. The hepatitis C virus is usually detectable in the blood within one to three weeks after infection, and antibodies to the virus are generally detectable within 3 to 12 weeks. Approximately 20-30% of persons infected with HCV clear the virus from their bodies during the acute phase as shown by normalization in liver function tests (LFTs) such as alanine transaminase (ALT) & aspartate transaminase (AST) normalization, as well as plasma HCV-RNA clearance (this is known as spontaneous viral clearance). The remaining 70-80% of patients infected with HCV develop chronic hepatitis C, i.e., infection lasting more than 6 months. Previous practice was to not treat acute infections to see if the person would spontaneously clear; recent studies have shown that treatment during the acute phase of genotype 1 infections has a greater than 90% success rate with half the treatment time required for chronic infections, but that the majority of acute hepatitis C is cleared. Chronic Hepatitis C Chronic hepatitis C is defined as infection with the hepatitis C virus persisting for more than six months. Clinically, it is often asymptomatic (without jaundice) and it is mostly discovered accidentally. The natural course of chronic hepatitis C varies considerably from one person to another. Virtually all people infected with HCV have evidence of inflammation on liver biopsy, however, the rate of progression of liver scarring (fibrosis) shows significant variability among individuals. Recent data suggests that among untreated patients, roughly one-third progress to liver cirrhosis in less than 20 years. Another third progress to cirrhosis within 30 years. The remainder of patients appear to progress so slowly that they are unlikely to develop cirrhosis within their lifetimes. Factors that have been reported to influence the rate of HCV disease progression include age (increasing age associated with more rapid progression), gender (males have more rapid disease progression than females), alcohol consumption (associated with an increased rate of disease progression), HIV coinfection (associated with a markedly increased rate of disease progression), and fatty liver (the presence of fat in liver cells has been associated with an increased rate of disease progression). Symptoms specifically suggestive of liver disease are typically absent until substantial scarring of the liver has occurred. However, hepatitis C is a systemic disease and patients may experience a wide spectrum of clinical manifestations ranging from an absence of symptoms to debilitating illness prior to the development of advanced liver disease. Generalized signs and symptoms associated with chronic hepatitis C include fatigue, marked weight loss, flu-like symptoms, muscle pain, joint pain, intermittent low-grade fevers, itching, sleep disturbances, abdominal pain (especially in the right upper quadrant), appetite changes, nausea, diarrhea, dyspepsia, cognitive changes, depression, headaches, and mood swings. Once chronic hepatitis C has progressed to cirrhosis, signs and symptoms may appear that are generally caused by either decreased liver function or increased pressure in the liver circulation, a condition known as portal hypertension. Possible signs and symptoms of liver cirrhosis include ascites (accumulation of fluid in the abdomen), bruising and bleeding tendency, bone pain, varices (enlarged veins, especially in the stomach and esophagus), fatty stools (steatorrhea), jaundice, and a syndrome of cognitive impairment known as hepatic encephalopathy. Liver function tests show variable elevation of ALAT, AST and GGTP and periodically they might show normal results. Usually prothrombin and albumin results are normal. Chronic hepatitis C, more than other forms of hepatitis, is diagnosed because of extrahepatic manifestations associated with the presence of HCV such as thyroiditis (inflammation of the thyroid) with hyperthyreosis or hypothyreosis, porphyria cutanea tarda, cryoglobulinemia (a form of vasculitis) and glomerulonephritis (inflammation of the kidney), specifically membranoproliferative glomerulonephritis (MPGN). Hepatitis C is also associated with sicca syndrome, thrombocytopenia, lichen planus, diabetes mellitus and with B-cell lymphoproliferative disorders.

A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an ENCEPHALOCELE. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA. (From Menkes, Textbook of Child Neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46)

Acute Lymphocytic Leukemia, or ALL, is the most common type of leukemia in children under 19 years of age. ALL goes by several names, and may also be called acute lymphoid leukemia and acute lymphoblastic leukemia. As an acute blood cancer, AML is fast growing and affects white blood cells (lymphocytes) in the blood and bone marrow. Immature cells called blasts in the bone marrow that would normally develop into white blood cells undergo uncontrolled and exaggerated growth in AML, and fail to function properly. Their uncontrolled growth blocks the normal production of red blood cells, white blood cells, and platelets. ALL typically affects children, though it can affect people of all ages. About one third of ALL cases are in adults. There are 6 subtypes of ALL based on the kind of lymphocyte affected, and treatment may differ depending on the subtype of ALL diagnosed. Approximately 85% of ALL is a B cell lymphocyte type, and approximately 15% is a T cell lymphocyte type. Symptoms of ALL will depend on the number of normal blood cells and number of leukemia cells a person has. They may include anemia, fever, frequent infections, easy bruising, tiring easily, enlarged lymph nodes, and less commonly headache and vomiting. Treatment may include chemotherapy, radiation, bone marrow transplant, cord blood transplant, as well as other developing therapies.

Diabetes mellitus type 2 (formerly called diabetes mellitus type II, non-insulin-dependent diabetes (NIDDM), obesity related diabetes, or adult-onset diabetes) is a metabolic disorder that is primarily characterized by insulin resistance, relative insulin deficiency, and hyperglycemia. It is presently incurable. It is rapidly increasing in the developed world, and there is some evidence that this pattern will be followed in much of the rest of the world in coming years. The CDC has characterized the increase as an epidemic. Unlike Type 1 diabetes, there is little tendency toward ketoacidosis in Type 2 diabetics, though it is not unknown. Complex and multifactorial metabolic changes lead to damage and function impairment of many organs, most importantly the cardiovascular system in both Types. This leads to substantially increased morbidity and mortality in both Type 1 and Type 2 patients, but the two have quite different origins and treatments despite the similarity in complications which often confuse even diabetics.

# Blepharophimosis Blepharophimosis is a condition where the patient has a drooping of the eyelid with reduced eyelid size (ptosis), vertically and horizontally. The nasal bridge is flat and there is hypoplastic orbital rim. Both the vertical and horizontal eyelid openings are shortened. Vignes (1889) probably first described this entity, a dysplasia of the eyelids. ## Treatment * Eyelid Surgery Timing of eyelid surgery involves balancing the benefits of early surgery to prevent deprivation amblyopia versus late surgery to allow for more reliable ptosis measurements. Surgery involves a medial canthoplasty for correction of the blepharophimosis, epicanthus inversus, and telecanthus at age three to five years, usually followed a year later by ptosis correction; however, when ptosis is severe, surgical repair is recommended before age three years. * Hormone Replacement Therapy (prenatal) Premature ovarian failure is treated with hormone replacement therapy; fertility is addressed with reproductive technologies such as embryo donation and egg donation. ## Additional Information 1. [Genetic and Rare Diseases Info Center](http://ghr.nlm.nih.gov/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome/show/Genetic+and+Rare+Diseases+Information+Center) 2. [MedlinePlus](http://ghr.nlm.nih.gov/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome/show/MedlinePlus) 3. [Additional Informational Resources](http://ghr.nlm.nih.gov/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome/show/Educational+resources) 4. [Photo of Blepharophimosis Patient](http://www.mrcophth.com/ptosis/blepharophimosis.html)

Mixed connective tissue disease (MCTD) or Sharp's syndrome is a human autoimmune disease in which the immune system attacks the body. MCTD combines features of polymyositis, systemic lupus erythematosus, and systemic scleroderma and is thus considered an overlap syndrome. MCTD commonly causes joint pain/swelling, Raynaud phenomenon, muscle inflammation, and scarring of the skin of the hand. It does not typically cause kidney disease or seizures. Distinguishing laboratory characteristics are a positive, speckled anti-nuclear antibody and an anti-U1-RNP antibody.

congenital syndrome with the absence of the thymus and parathyroids causing impairment of cellular immunity; immunoglobulin levels are normal.

Empty sella syndrome (abbreviated ESS) is a disorder that involves the sella turcica, a bony structure at the base of the brain that surrounds and protects the pituitary gland. ESS is a condition that is often discovered during tests for pituitary disorders, when radiological imaging of the pituitary gland reveals a sella turica that appears to be empty. There are two types of ESS: primary and secondary. Primary ESS happens when a small anatomical defect above the pituitary gland increases pressure in the sella turica and causes the gland to flatten out along the interior walls of the sella turica cavity. Primary ESS is associated with obesity and high blood pressure in women. The disorder sometimes results in a build-up of fluid pressure inside the skull and the pituitary gland may be smaller than usual. Secondary ESS is the result of the pituitary gland regressing within the cavity after an injury, surgery, or radiation therapy. Individuals with secondary ESS due to destruction of the pituitary gland have symptoms that reflect the loss of pituitary functions, such as the ceasing of menstrual periods, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. MRI scans are useful in evaluating ESS and differentiating it from other disorders that produce an enlarged sella. Treatment Unless the syndrome results in other medical problems, treatment for endocrine dysfunction associated with pituitary malfunction is symptomatic and supportive. In some cases, surgery may be needed.

Pachygyria (from the Greek "pachy" meaning "thick" or "fat" gyri) is a congenital malformation of the cerebral hemisphere. It results in unusually thick convolutions of the cerebral cortex. Typically, children have developmental delay and seizures, the onset and severity depending on the severity of the cortical malformation. Infantile spasms are common in affected children, as is intractable epilepsy. Pathogenesis Pachygyria, lissencephaly (smooth brain), and polymicrogyria (multiple small gyri) are all the results of abnormal cell migration. The abnormal migration is typically associated with a disorganized cellular architecture, failure to form six layers of cortical neurons (a four-layer cortex is common), and functional problems. The abnormal formation of the brain may be associated with seizures, developmental delay, and mental dysfunctions. Normally, the brain cells begin to develop in the periventricular region (germinal matrix) and then migrate from medial to lateral, to form the cerebral cortex.

Autoimmune hepatitis (also called Lupoid hepatits) is an auto-immune disease which causes liver cirrhosis. It may be associated with systemic lupus erythematosus (SLE) or other connective tissue disorders. 60% of patients have chronic hepatitis that may mimic viral hepatitis, but without serologic evidence of a viral infection. The disease usually affects women and is strongly associated with anti-smooth muscle auto-antibodies. Autoimmune hepatitis is a condition in which the patient's own immune systems attacks the liver causing inflammation and liver cell death. The condition is chronic and progressive. Although the disease is chronic, many patients with autoimmune hepatitis present acutely ill with jaundice, fever and sometimes symptoms of severe hepatic dysfunction, a picture that resembles acute hepatitis. Anomalous presentation of human leukocyte antigen (HLA) class II on the surface of hepatocytes—possibly due to genetic predisposition or acute liver infection—causes a cell-mediated immune response against the body's own liver, resulting in autoimmune hepatitis. Autoimmune hepatitis has an incidence of 1-2 per 100,000 per year, and a prevalence of 15-20/100,000. As with most other autoimmune diseases, it affects women much more often than men (8:1). Liver enzymes are elevated, as is bilirubin. Autoimmune hepatitis can progress to cirrhosis. Treatment is with steroids and disease-modifying antirheumatic drugs (DMARDs). The diagnosis of autoimmune hepatitis is best achieved with a combination of clinical and laboratory findings. A number of specific antibodies found in the blood (antinuclear antibody (ANA), smooth muscle antibody (SMA), Liver/kidney microsomal antibody (LKM-1) and anti-mitochondrial antibody (AMA)) are of use, as is finding an increased Immunoglobulin G level. However, the diagnosis of autoimmune hepatitis always requires a liver biopsy. In complex cases a scoring system can be used to help determine if a patient has autoimmune hepatitis, which combines clinical and laboratory features of a given case. Four subtypes are recognised, but the clinical utility of distinguishing subtypes is limited. 1. Positive ANA and SMA, raised immunoglobulin G (classic form, responds well to low dose steroids) 2. Positive LKM-1 (typically female children and teenagers; disease can be severe) 3. All antibodies negative, positive antibodies against soluble liver antigen (SLA)(now designated SLP/LP). This group behaves like group 1. 4. No autoantibodies detected (~13%)

Spina bifida (Latin: "split spine") is a developmental birth defect involving the neural tube: incomplete closure of the embryonic neural tube results in an incompletely formed spinal cord. In addition, the bones of the spine (vertebrae) overlying the open portion of the spinal cord do not fully form and remain unfused and open. This allows the abnormal portion of the spinal cord to protrude through the opening in the bones. There may or may not be a fluid filled sac surrounding the open spinal cord. Other neural tube defects include anencephaly, a condition in which the portion of the neural tube which will become the cerebrum (front of the brain) does not close and encephalocele which results when other parts of the brain remain unfused. Spina bifida malformations fall into three categories: spina bifida occulta, spina bifida cystica (meningomyelocele), and meningocele. The most common location of the malformations is the lumbar and sacral areas of the spinal cord. Meningomyelocele is the most significant form and is that which leads to disability in most affected individuals. The terms spina bifida and meningomyelocele are usually used interchangeably. Spina bifida can be surgically closed after birth, but this does not restore normal function to the affected part of the spinal cord and an individual with this condition will have dysfunction of the spinal cord and associated nerves from the point of the open defect and below. Intrauterine surgery for spina bifida has also been performed and the safety and efficacy of this procedure is currently being investigated with an NICHD-funded grant. The incidence of spina bifida can be decreased up to 70% when daily folic acid supplements are taken prior to conception.

Celiac disease is a digestive disease that damages the small intestine and interferes with absorption of nutrients from food. People who have celiac disease cannot tolerate a protein called gluten, found in wheat, rye, and barley. When people with celiac disease eat foods or use products containing gluten, their immune system responds by damaging the small intestine. The tiny, fingerlike protrusions lining the small intestine are damaged or destroyed. Called villi, they normally allow nutrients from food to be absorbed into the bloodstream. Without healthy villi, a person becomes malnourished, regardless of the quantity of food eaten. Coeliac disease or celiac disease is an autoimmune disorder of the small bowel that occurs in genetically predisposed individuals in all age groups after early infancy. Symptoms may include diarrhoea, failure to thrive (in children) and fatigue, but these may be absent and associated symptoms in all other organ systems have been described. It affects approximately 1% of Caucasian populations, though it is significantly underdiagnosed. A growing portion of diagnoses are being made in asymptomatic persons as a result of increasing screening. Coeliac disease is caused by a reaction to gliadin, a gluten protein found in wheat (and similar proteins of the tribe Triticeae which includes other cultivars such as barley and rye). Upon exposure to gliadin, the body's immune system cross-reacts with the enzyme tissue transglutaminase, causing an inflammatory reaction that leads to flattening of the lining of the small intestine, which interferes with the absorption of nutrients. The only effective treatment is a diet, lifelong in principle, from which gluten is absent. This condition has several other names, including: cœliac disease (with ligature), c(o)eliac sprue, non-tropical sprue, endemic sprue, gluten enteropathy or gluten-sensitive enteropathy, and gluten intolerance. The term coeliac derives from the Greek κοιλια (koilia, abdomen), and was introduced in the 19th century in a translation of what is generally regarded as an ancient Greek description of the disease by Aretaeus of Cappadocia.

# Chronic Pain Chronic pain is pain that has lasted for a long time. In medicine, the distinction between acute and chronic pain has traditionally been determined by an arbitrary interval of time since onset; the two most commonly used markers being 3 months and 6 months since onset,[1] though some theorists and researchers have placed the transition from acute to chronic pain at 12 months.[2] Others apply acute to pain that lasts less than 30 days, chronic to pain of more than six months duration, and subacute to pain that lasts from one to six months.[3] A popular alternative definition of chronic pain, involving no arbitrarily fixed durations is "pain that extends beyond the expected period of healing."[1] ## Classification Chronic pain may be divided into "nociceptive" (caused by activation of nociceptors), and "neuropathic" (caused by damage to or malfunction of the nervous system).[4] Nociceptive pain may be divided into "superficial" and "deep", and deep pain into "deep somatic" and "visceral". Superficial pain is initiated by activation of nociceptors in the skin or superficial tissues. Deep somatic pain is initiated by stimulation of nociceptors in ligaments, tendons, bones, blood vessels, fasciae and muscles, and is dull, aching, poorly-localized pain. Visceral pain originates in the viscera (organs). Visceral pain may be well-localized, but often it is extremely difficult to locate, and several visceral regions produce "referred" pain when damaged or inflamed, where the sensation is located in an area distant from the site of pathology or injury.[5] Neuropathic pain is divided into "peripheral" (originating in the peripheral nervous system) and "central" (originating in the brain or spinal cord).[6] Peripheral neuropathic pain is often described as “burning,” “tingling,” “electrical,” “stabbing,” or “pins and needles.” [7]. ## Management Complete and sustained remission of many neuropathies and most idiopathic chronic pain (pain that extends beyond the expected period of healing, or chronic pain that has no known underlying pathology) is rarely achieved, but much can be done to reduce suffering and improve quality of life.[14] Pain management (also called pain medicine) is that branch of medicine employing an interdisciplinary approach to the relief of pain and improvement in the quality of life of those living with pain.[15] The typical pain management team includes medical practitioners, clinical psychologists, physiotherapists, occupational therapists, and nurse practitioners.[16] Acute pain usually resolves with the efforts of one practitioner; however, the management of chronic pain frequently requires the coordinated efforts of the treatment team.[17][18][19] ## Studies & Statistics In a recent large-scale telephone survey of 15 European countries and Israel, 19% of respondents over 18 years of age had suffered pain for more than 6 months, including the last month, and more than twice in the last week, with pain intensity of 5 or more for the last episode, on a scale of 1(no pain) to 10 (worst imaginable). 4839 of these respondents with chronic pain were interviewed in depth. Sixty six percent scored their pain intensity at moderate (5–7), and 34% at severe (8–10); 46% had constant pain, 56% intermittent; 49% had suffered pain for 2–15 years; and 21% had been diagnosed with depression due to the pain. Sixty one percent were unable or less able to work outside the home, 19% had lost a job, and 13% had changed jobs due to their pain. Forty percent had inadequate pain management and less than 2% were seeing a pain management specialist.[20] ## Comorbidities Chronic pain is associated with higher rates of depression and anxiety.[21] Sleep disturbance, and insomnia due to medication and illness symptoms are often experienced by those with chronic pain.[22] Substance abuse is highly prevalent in some segments of the chronic pain population such as those with chronic headache.[23] Chronic pain may contribute to decreased physical activity due to fear of exacerbating pain.[2 ## Psychology ### Personality Two of the most frequent personality profiles found in chronic pain patients by the Minnesota Multiphasic Personality Inventory (MMPI) are the conversion V and the neurotic triad. The conversion V personality, so called because the higher scores on MMPI scales 1 and 3, relative to scale 2, form a "V" shape on the graph, expresses exaggerated concern over body feelings, develops bodily symptoms in response to stress, and often fails to recognize their own emotional state, including depression. The neurotic triad personality, scoring high on scales 1, 2 and 3, also expresses exaggerated concern over body feelings and develops bodily symptoms in response to stress, but is demanding and complaining.[24] Some investigators have argued that it is this neuroticism that causes acute pain to turn chronic, but clinical evidence points the other way, to chronic pain causing neuroticism. When long term pain is relieved by therapeutic intervention, scores on the neurotic triad and anxiety fall, often to normal levels.[25] [26] [27][28] Self-esteem, often low in chronic pain patients, also shows striking improvement once pain has resolved. [28] ### Effect on Cognition Chronic pain's impact on cognition is an under-researched area, but several tentative conclusions have been published. Most chronic pain patients complain of cognitive impairment, such as forgetfulness, difficulty with attention, and difficulty completing tasks. Objective testing has found that people in chronic pain tend to experience impairment in attention, memory, mental flexibility, verbal ability, speed of response in a cognitive task, and speed in executing structured tasks. In 2007, Shulamith Kreitler and David Niv advised clinicians to assess cognitive function in chronic pain patients in order to more precisely monitor therapeutic outcomes, and tailor treatment to address this aspect of the pain experience.[29] ## References 1. Turk, D.C.; Okifuji, A. (2001). "Pain terms and taxonomies". In Loeser, D.; Butler, S. H.; Chapman, J.J. et al. Bonica's management of pain (3 ed.). Lippincott Williams & Wilkins. pp. 18–25. ISBN 0-683-30462-3. 2. Main, C.J.; Spanswick, C.C. (2001). Pain management: an interdisciplinary approach. Elsevier. p. 93. ISBN 0-443-05683-8. 3. Thienhaus, O.; Cole, B.E. (2002). "Classification of pain". In Weiner, R.S.. Pain management: A practical guide for clinicians (6 ed.). American Academy of Pain Management. ISBN 0-8493-0926-3. 4. Keay, KA; Clement, CI; Bandler, R (2000). "The neuroanatomy of cardiac nociceptive pathways". In Horst, GJT. The nervous system and the heart. Totowa, New Jersey: Humana Press. p. 304. ISBN 089603. 5. Coda, BA; Bonica, JJ (2001). "General considerations of acute pain". In Loeser, D; Bonica, JJ. Bonica's management of pain (3 ed.). Philadelphia: Lippincott Williams & Wilkins. ISBN 0-443-05683-8. 6. Bogduk, N; Merskey, H (1994). Classification of chronic pain: descriptions of chronic pain syndromes and definitions of pain terms (second ed.). Seattle: IASP Press. p. 212. ISBN 0-931092-05-1. 7. Paice, JA (Jul-Aug 2003). "Mechanisms and management of neuropathic pain in cancer". Journal of supportive oncology 1 (2): 107–20. PMID 15352654. 8. Vadivelu N, Sinatra R (2005). "Recent advances in elucidating pain mechanisms". Current opinion in anaesthesiology 18 (5): 540–7. doi:10.1097/01.aco.0000183109.27297.75. PMID 16534290. 9. Geha PY, Baliki MN, Harden RN, Bauer WR, Parrish TB, Apkarian AV (2008). "The brain in chronic CRPS pain: Abnormal gray-white matter interactions in emotional and autonomic regions". Neuron 60 (4): 570–581. doi:10.1016/j.neuron.2008.08.022. PMC 2637446. PMID 19038215. 10. Baliki MN, Geha PY, Apkarian AV, Chialvo DR (2008). "Beyond feeling: chronic pain hurts the brain, disrupting the default-mode network dynamics". J of Neurosci 28 (6): 1398–1403. doi:10.1523/JNEUROSCI.4123-07.2008. PMID 18256259. 11. Tagliazucchi E, Balenzuela P, Fraiman D, Chialvo DR (2010). "Brain resting state is disrupted in chronic back pain patients". Neurosci Lett 485 (1): 26–31. doi:10.1016/j.neulet.2010.08.053. PMC 2954131. PMID 20800649. 12. May A (2009). "Chronic pain may change the structure of the brain". Pain 137 (1): 7–15. doi:10.1016/j.pain.2008.02.034. PMID 18410991. 13. DA, Wideman TH, Naso L, Hatami-Khoroushahi Z, Fallatah S, Ware MA, Jarzem P, Bushnell MC, Shir Y, Ouellet JA, Stone LS (2011). "Effective treatment of chronic low back pain in humans reverses abnormal brain anatomy and function". Journal of Neuroscience 31 (20): 7540–50. doi:10.1523/JNEUROSCI.5280-10.2011. PMID 21593339. 14. Chou R, Huffman LH (2007). "Ann Intern Med. 2007 Oct 2;147(7):505-14". Annals of internal medicine 147 (7): 505–14. PMID 17909211. 15. Hardy, Paul A. J. (1997). Chronic pain management: the essentials. U.K.: Greenwich Medical Media. ISBN 1-900151-85-5. 16. Main, Chris J.; Spanswick, Chris C. (2000). Pain management: an interdisciplinary approach. Churchill Livingstone. ISBN 0-443-05683-8. 17. Thienhaus, Ole; Cole, B. Eliot (2002). "The classification of pain". In Weiner, Richard S,. Pain management: A practical guide for clinicians. CRC Press. p. 29. ISBN 0-8493-0926-3. 18. Henningsen P, Zipfel S, Herzog W (2007). "Management of functional somatic syndromes". Lancet 369 (9565): 946–55. doi:10.1016/S0140-6736(07)60159-7. PMID 17368156. 19. Stanos S, Houle TT (2006). "Multidisciplinary and interdisciplinary management of chronic pain". Physical medicine and rehabilitation clinics of North America 17 (2): 435–50, vii. doi:10.1016/j.pmr.2005.12.004. PMID 16616276. 20. Breivik H, Collett B, Ventafridda V, Cohen R, Gallacher D (May 2006). "Survey of chronic pain in Europe: prevalence, impact on daily life, and treatment". Eur J Pain 10 (4): 287–333. doi:10.1016/j.ejpain.2005.06.009. PMID 16095934. 21. a b Pruimboom L, van Dam AC (2007). "Chronic pain: a non-use disease". Med. Hypotheses 68 (3): 506–11. doi:10.1016/j.mehy.2006.08.036. PMID 17071012. 22. Ferini-Strambi L (2011). "Sleep disorders in multiple sclerosis". Handb Clin Neurol.. Handbook of Clinical Neurology 99: 1139–46. doi:10.1016/B978-0-444-52007-4.00025-4. ISBN 978-0-444-52007-4. PMID 21056246. 23. Norton PJ, Asmundson GJ, Norton GR, Craig KD (January 1999). "Growing pain: 10-year research trends in the study of chronic pain and headache". Pain 79 (1): 59–65. doi:10.1016/S0304-3959(98)00149-3. PMID 9928777. 24. Leo, Raphael (2007). Clinical manual of pain management in psychiatry. Washington, DC: American Psychiatric Publishing. p. 58. ISBN 978-1-58562-275-7. 25. Fishbain, David A.; Cole, Brandly, Cutler, R. Brian, Lewis, J., Rosomoff, Hubert L., Rosomoff, R. Steele (1 November 2006). "Chronic Pain and the Measurement of Personality: Do States Influence Traits?". Pain Medicine 7 (6): 509–529. doi:10.1111/j.1526-4637.2006.00239.x. Retrieved 25 September 2011. 26. JESS,, P.; T. JESS, H. BECK, P. BECH (1 January 1998). "Neuroticism in Relation to Recovery and Persisting Pain after Laparoscopic Cholecystectomy". Scandinavian Journal of Gastroenterology 33 (5): 550–553. doi:10.1080/00365529850172151. 27. Jess, P; Bech, P (1994). "The validity of Eysenck's neuroticism dimension within the Minnesota Multiphasic Personality Inventory in patients with duodenal ulcer. The Hvidovre Ulcer Project Group.". Psychotherapy and psychosomatics 62 (3-4): 168–75. PMID 7846260. 28. a b Melzack, R; Wall, PD (1996). The challenge of pain (2 ed.). London: Penguin. pp. 31–32. ISBN 4780140256703. 29. Kreitler S; Niv D (2007). "Cognitive impairment in chronic pain" (pdf). Pain: Clinical Updates (International Association for the Study of Pain) XV (4): 1–4. Retrieved 2008-04-15.

Physical fitness is used in two close meanings - general fitness (a state of health and well-being) and specific fitness (a task-oriented definition based on the ability to perform specific aspects of sports or occupations). General fitness Physical fitness is the result of regular exercise, proper diet and nutrition, and proper rest for physical recovery within the parameters allowed by the genome. Physical fitness is often divided into the following types (in alphabetical order): Agility Balance Body composition Cardiovascular endurance Coordination Flexibility and joint range of motion Muscular strength & endurance Speed Physical exercise is the performance of some activity to develop or maintain physical fitness and overall health. It is often directed toward also honing athletic ability or skill. Frequent and regular physical exercise is an important component in the prevention of some of the diseases of affluence such as heart disease, cardiovascular disease, Type 2 diabetes and obesity.

Rheumatoid arthritis (RA) is traditionally considered a chronic, inflammatory autoimmune disorder that causes the immune system to attack the joints. It is a disabling and painful inflammatory condition, which can lead to substantial loss of mobility due to pain and joint destruction. RA is a systemic disease, often affecting extra-articular tissues throughout the body including the skin, blood vessels, heart, lungs, and muscles. The name is derived from the Greek rheumatos meaning "flowing", the suffix -oid meaning "in the shape of", arthr meaning "joint" and the suffix -itis, a "condition involving inflammation".

Multiple sclerosis (abbreviated MS, also known as disseminated sclerosis or encephalomyelitis disseminata) is a chronic, inflammatory disease that affects the central nervous system (CNS). MS can cause a variety of symptoms, including changes in sensation, visual problems, muscle weakness, depression, difficulties with coordination and speech, severe fatigue, short term memory loss, problems with balance, over heating and pain. MS will cause impaired mobility and disability in more severe cases. Multiple sclerosis affects neurons, the cells of the brain and spinal cord that carry information, create thought and perception, and allow the brain to control the body. Surrounding and protecting some of these neurons is a fatty layer known as the myelin sheath, which helps neurons carry electrical signals. MS causes gradual destruction of myelin (demyelination) and transection of neuron axons in patches throughout the brain and spinal cord. The name multiple sclerosis refers to the multiple scars (or scleroses) on the myelin sheaths. This scarring causes symptoms which vary widely depending upon which signals are interrupted. The predominant theory today is that MS results from attacks by an individual's immune system on the nervous system and it is therefore usually categorized as an autoimmune disease. There is a minority view that MS is not an autoimmune disease, but rather a metabolically dependent neurodegenerative disease. Multiple sclerosis may take several different forms, with new symptoms occurring either in discrete attacks or slowly accruing over time. Between attacks, symptoms may resolve completely, but permanent neurologic problems often persist. Although much is known about how MS causes damage, its exact cause remains unknown. MS currently does not have a cure, though several treatments are available which may slow the appearance of new symptoms. MS primarily affects adults, with an age of onset typically between 20 and 40 years, and is more common in women than in men.

# Agenesis of the corpus callosum (ACC or AgCC) Agenesis of the Corpus Callosum is a rare birth defect in which the structure that connects the two hemispheres of the brain (the corpus callosum) is partially or completely absent. ACC can occur as an isolated condition or in combination with other cerebral abnormalities, including [Arnold-Chiari malformation](/pages/conditions/arnold-chiari-malformation--2), [Dandy Walker syndrome](http://careplace.com/pages/conditions/dandy-walker-syndrome), Andermann syndrome, schizencephaly (clefts or deep divisions in brain tissue), and [holoprosencephaly](/pages/conditions/holoprosencephaly) (failure of the forebrain to divide into lobes.) Girls may have a gender-specific condition called [Aicardi's syndrome](/pages/conditions/aicardi-syndrome), which causes severe mental retardation, seizures, abnormalities in the vertebra of the spine, and lesions on the retina of the eye. ACC can also be associated with malformations in other parts of the body, such as midline facial defects. The effects of the disorder range from subtle or mild to severe, depending on associated brain abnormalities. Intelligence may be normal with mild compromise of skills requiring matching of visual patterns. But children with the most severe brain malformations may have intellectual retardation, seizures, [hydrocephalus](/pages/conditions/hydrocephalus), and [spasticity](/pages/symptoms/muscle-spasticity). ## Diagnosis Callosal disorders can be diagnosed only through a brain scan.[2] They may be diagnosed through an MRI, [CT scan](/pages/treatments/computerized-axial-tomography-ct-scan), prenatal ultrasound, or prenatal MRI. ## Cause Agenesis of the corpus callosum is caused by disruption to development of the fetal brain between the 3rd and 12th weeks of pregnancy.[2] In most cases, it is not possible to know what caused an individual to have ACC or another callosal disorder. However, research suggests that some possible causes may include [chromosome errors](pages/conditions/genetic-and-rare-conditions), [inherited genetic factors](/pages/conditions/genetic-and-rare-conditions), prenatal infections or injuries, prenatal toxic exposures, structural blockage by cysts or other brain abnormalities, and metabolic disorders.[1] ## Signs and Symptoms Signs and symptoms of ACC and other callosal disorders vary greatly among individuals. However, some characteristics common in individuals with callosal disorders include vision impairments, low muscle tone (hypotonia), poor motor coordination, delays in motor milestones such as sitting and walking, low perception of pain, delayed toilet training, and chewing and swallowing difficulties. Laboratory research has demonstrated that individuals with ACC have difficulty transferring more complex information from one hemisphere to the other.[4] They also have been shown to have some cognitive disabilities (difficulty in complex problem solving) and social difficulties (missing subtle social cues), even when their Intelligence Quotient is normal.[4] Recent research suggests that specific social difficulties may be a result of impaired face processing.[5] The unusual social behavior in childhood is often mistaken for or misdiagnosed as Asperger syndrome or other autism spectrum disorders. Other characteristics sometimes associated with callosal disorders include seizures, spasticity, early feeding difficulties and/or [gastric reflux](/pages/conditions/gastroesophageal-reflux-disease), hearing impairments, abnormal head and facial features, and mental retardation. ## Treatment There are currently no specific medical treatments for callosal disorders, but individuals with ACC and other callosal disorders may benefit from a range of developmental therapies, educational support, and services. It is important to consult with a variety of medical, health, educational, and social work professionals. Such professionals include neurologists, neuropsychologists, occupational therapists, physical therapists, speech and language pathologists, pediatricians, music therapists, geneticists, special educators, early childhood intervention specialists, and caregivers for adults. ## Prognosis Prognosis varies depending on the type of callosal abnormality and associated conditions or syndromes. It is not possible for the corpus callosum to regenerate (i.e., the corpus callosum will not regrow).[2] Neuropsychological testing reveals subtle differences in higher cortical function compared to individuals of the same age and education without ACC, although some individuals with callosal disorders have average intelligence and lead normal lives. ## Sources 1. [ACC - What is agenesis of the corpus callosum?". University of Maine. Retrieved April 11, 2010.](http://www.umaine.edu/edhd/research/acc/what-is-agenesis-of-the-corpus-callosum-acc/) 2. [Corpus callosum disorders". National Organization for Disorders of the Corpus Callosum. Retrieved April 11, 2010.](https://www.nodcc.org/index.php?option=com_content&task=view&id=12&Itemid=27) 3. [Badano JL, Mitsuma N, Beales PL, Katsanis N (2006). "The Ciliopathies: An Emerging Class of Human Genetic Disorders". Annual Review of Genomics and Human Genetics 7: 125–148.](http://arjournals.annualreviews.org/doi/abs/10.1146/annurev.genom.7.080505.115610) 4. [http://www.travisinstitute.org/neuroscience/agenesis.htm]("Agenesis of the Corpus Callosum". Travis Research Institute. Retrieved April 11, 2010.) 5. ["Corpus Callosum Research Program". California Institute of Technology. Archived from the original on 10 April 2010. Retrieved April 11, 2010.](http://emotion.caltech.edu/agcc/)

Endometriosis occurs when tissue like that which lines the inside of uterus grows outside the uterus, usually on the surfaces of organs in the pelvic and abdominal areas, in places that it is not supposed to grow. Thought to be one of the most common gynecological disorders in North America, endometriosis affects an estimated 5.5 million women . It is estimated that 30-40% of women with endometriosis are infertile. Some symptoms include fatigue, bloating, painful intercourse, bowel or bladder problems, joint pain, muscle pain, allergies, etc., along with pain.

In 2002, the World Health Organization (WHO) declassified MFH as a formal diagnostic entity and renamed it as an Undifferentiated Pleomorphic Sarcoma - (not otherwise specified) (NOS). This new terminology has been supported by a compelling body of evidence over the last decade to suggest that MFH represents a final common pathway in tumors that undergo progression towards undifferentiation. While it remains unclear how to most accurately organize these tumors, the term Malignant Fibrous Histiocytoma represents the diagnosis for thousands of patients and is still commonly used by both patients and physicians in the USA. 4. World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone. Edited by Fletcher CDM, U. K., Mertens F., Lyon, France, IARC Press, 2002.

A form of multiple endocrine neoplasia that is characterized by the combined occurrence of tumors in the PARATHYROID GLANDS, the PITUITARY GLAND, and the PANCREATIC ISLETS. The resulting clinical signs include HYPERPARATHYROIDISM; HYPERCALCEMIA; HYPERPROLACTINEMIA; CUSHING DISEASE; GASTRINOMA; and ZOLLINGER-ELLISON SYNDROME. This disease is due to loss-of-function of the MEN1 gene, a tumor suppressor gene (GENES, TUMOR SUPPRESSOR) on CHROMOSOME 11 (Locus: 11q13).

Polycythemia is a condition in which there is a net increase in the total number of red blood cells in the body. The overproduction of red blood cells may be due to a primary process in the bone marrow (a so-called myeloproliferative syndrome), or it may be a reaction to chronically low oxygen levels or, rarely, a malignancy. Primary polycythemia (Polycythemia vera) Primary polycythemia, often called polycythemia vera (PCV), polycythemia rubra vera (PRV), or erythremia, occurs when excess red blood cells are produced as a result of an abnormality of the bone marrow. Often, excess white blood cells and platelets are also produced. Polycythemia vera is classified as a myeloproliferative disease. Epidemiology Polycythemia vera occurs in all age groups (including children), although the incidence increases with age. One study found the median age at diagnosis to be 60 years, while a study in Olmsted County, Minnesota found that the highest incidence was in people aged 70–79 years. The overall incidence in the Minnesota population was 1.9 per 100,000 person-years, and the disease was more common in men than women. Symptoms Patients with polycythemia vera are often asymptomatic. A classic symptom of polycythemia vera is generalized itching, particularly after exposure to warm water, which may be due to abnormal histamine release or prostaglandin production. Such itching is present in approximately 40% of patients with polycythemia vera. Gouty arthritis may be present in up to 20% of patients. Peptic ulcer disease is also common in patients with polycythemia vera; the reasons for this are unclear, but may be related to an increased susceptibility to infection with the ulcer-causing bacterium H. pylori. A rare but classic symptom of polycythemia vera (and the related myeloproliferative disease essential thrombocythemia) is erythromelalgia.[8] This is a sudden, severe burning pain in the hands or feet, usually accompanied by a reddish or bluish coloration of the skin. Erythromelalgia is caused by an increased platelet count or increased platelet "stickiness", resulting in the formation of tiny blood clots in the vessels of the extremity; it responds rapidly to treatment with aspirin. Patients with polycythemia vera are prone to the development of blood clots (thrombosis). A major thrombotic complication (e.g. heart attack, stroke, deep venous thrombosis, or Budd-Chiari syndrome) may sometimes be the first symptom or indication that a person has polycythemia vera. Diagnosis Patients with polycythemia vera may often be asymptomatic. Physical exam findings are non-specific, but may include enlarged liver or spleen, plethora, or gouty nodules. The diagnosis is often suspected on the basis of laboratory tests. Common findings include an elevated hemoglobin level or hematocrit, reflecting the increased number of red blood cells; the platelet count or white blood cell count may also be increased, low erythropoietin (EPO) level, and normal oxygen saturation > 92%. In primary polycythemia, there may be 8 to 9 million and occasionally 11 million erythrocytes per cubic millimeter of blood (a normal range for adults is 4-6), and the hematocrit may be as high as 70 to 80%. In addition, the total blood volume sometimes increases to as much as twice normal. The entire vascular system can become markedly engorged with blood, and circulation times for blood throughout the body can increase up to twice the normal value. The increased numbers of erythrocytes can cause the viscosity of the blood to increase as much as five times normal. Capillaries can become plugged by the very viscous blood, and the flow of blood through the vessels tends to be extremely sluggish. Recently, in 2005, a mutation in the JAK2 kinase (V617F) was found by multiple research groups to be strongly associated with polycythemia vera. JAK2 is a member of the Janus kinase family. This mutation may be helpful in making a diagnosis or as a target for future therapy. As a consequence of the above, people with untreated PV are at a risk of various thrombotic events (deep venous thrombosis, pulmonary embolism), heart attack and stroke, and have a substantial risk of Budd-Chiari syndrome (hepatic vein thrombosis). The condition is considered chronic; no cure exists. Symptomatic treatment (see below) can normalize the blood count and most patients can live a normal life for years.

Hemangioma is described as "a congenital benign skin lesion consisting of dense, usually elevated masses of dilated blood vessels". In most cases, hemangiomas will disappear over time. They are formed either during gestation or appear during the first few weeks of life and may present as a birthmark. Hemangiomas occur in approximately ten percent of Caucasians, and are less prevalent in other races. Females are three to five times more likely to have hemangiomas than males. Hemangiomas can be vivid superficial lesions, known as capillary hemangiomas (often referred to as "Strawberry Marks"), or they can be deep bluish swelling, known as cavernous hemangiomas. Sometimes they can be both superficial and deep. Approximately eighty percent are located on the face and neck, with the next most prevalent location being the liver. Although hemangiomas are benign, some serious complications can occur. Complications The vast majority of hemangiomas are not associated with complications. Hemangiomas may break down on the surface to form ulcers. If the ulceration is deep, significant bleeding may rarely occur. Ulceration on the diaper area can be painful and problematic. If an hemangioma develops in the larynx, breathing can be compromised. A hemangioma can grow and block one of the eyes, causing an occlusion amblyopia. Very rarely, extremely large hemangiomas can cause high-output heart failure due to the amount of blood that must be pumped to excess blood vessels. Lesions adjacent to bone can also cause erosion of the bone. The most frequent complaints about hemangiomas, however, stem from psychosocial complications: the condition can affect a person's appearance and can provoke attention and malicious reactions from others. Particular problems occur if the lip or nose is involved, as distortion can be difficult to treat Treatment Most hemangiomas disappear without treatment, leaving minimal or no visible marks. Large hemangiomas can leave visible skin changes secondary to severe stretching of the skin or damage to surface texture. When hemangiomas interfere with vision, breathing, or threaten significant cosmetic injury, they are usually treated. The mainstay of treatment is oral corticosteroid therapy. Other drugs such as interferon or vincristine are sometimes considered if the corticosteroids do not work. If this fails, surgical removal often becomes necessary. Blockage of the airway will often require a tracheostomy to be performed (insertion of an external airway through the front of the neck into the trachea below the level of the obstruction). Smaller raised lesions are sometimes treated with injection of corticosteroid directly into the lesion. Pulsed dye laser can be useful for very early flat lesions if they appear in cosmetically significant areas or for those lesions that leave residual surface blood vessels in the case of incomplete resolution. Ulceration will usually heal with topical medication and special dressings under medical supervision. Sometimes pulsed dye laser can be used to accelerate healing.

Dyslexia is a type of reading disability usually manifested as a difficulty with written language, particularly with reading and spelling. Evidence suggests that it is a result of a difference in how the brain processes written and/or verbal language. It is separate and distinct from reading difficulties resulting from other causes, such as deficiencies in intelligence, non-neurological deficiency with vision or hearing, or from poor or inadequate reading instruction. Dyslexia is a cultural issue, and stems from the problems that we have in using a man made communication system. First man created Speech as a form of communication, then we created various forms of visual notation of speech, in the Western Cultures we call this Text. And those who have problems processing or using text are called dyslexic. Other cultures have createwd different systems of visual notation of speech and so the problems faced by the dyslexics of different cultures vary according to the structure of their cultures visual notation of Speech. As this is a man made communication system, having problems with using it can not be defined as a condition in its own right, however it can be defined as a set of symptoms that highlight the existance of sensory or motor information processing deficits, or a conflcting dominenent learning style (Visual, Auditory, or Kineasthetic). whic requires further investigation, and possible clinical diagnosis.

The rotator cuff is an anatomical term given to the group of muscles and their tendons that act to stabilize the shoulder. Along with the teres major and the deltoid the four muscles of the rotator cuff make up the six scapulohumeral (those that connect to the humerus and scapula) muscles of the human body. Function These muscles arise from the scapula and connect to the head of the humerus forming a cuff at shoulder joint. They are important because they hold the head of the humerus in the small and shallow glenoid fossa of the scapula. The glenohumeral joint is often likened to a golf ball sitting on a golf tee. During elevation of the arm, the rotator cuff compresses the glenohumeral joint in order to allow the large deltoid muscle to further elevate the arm. In other words, without the rotator cuff, the humeral head would ride up partially out of the glenoid fossa, lessening the efficiency of the deltoid muscle. Some anatomists dispute the importance of the rotator cuff. According to them the m. biceps brachii is the key factor in keeping the bones together. Injuries This group of tendons can become torn, leading to pain and restricted movement of the arm. A torn rotator cuff can occur following a trauma to the shoulder or it can occur through "wear and tear" of the tendons under the acromion. It is an injury frequently sustained by athletes whose duties involve making repetitive throws, such as baseball pitchers, American football quarterbacks, or swimmers. It is commonly associated with motions that require repeated overhead motions or forceful pulling motions. Reduce Pain & Swelling As with all muscle injuries, R.I.C.E. is the modality recommended by MDs, Physical Therapists, Athletic Trainers, and Chiropractors. R=Rest I=Ice C=Compression E=Elevation Rest means stop doing any exercise or movement that causes pain. Pain is an indication the muscle tears are not healed and the tears are increasing. Icing numbs the area to decrease pain and also constricts the blood vessels to minimize swelling and bruising. Never ice for more than 15-20 minutes at a time as over icing will produce a different injury to the soft tissues. Compression also limits the swelling. Elevation doesn't really apply to the shoulder except when bending over or lying down. When the torn muscles are below the heart, more blood and serum can accumulate, increasing swelling and throbbing. Cold compression therapy is very useful for all muscle tears and strains as it reduces pain and swelling. Using a cold compression therapy wrap for 15 minutes before sleeping can aid in reducing the pain which causes a restless nights sleep. Strengthening The rotator cuff can be strengthened to rehabilitate shoulder injuries, and prevent future ones. There are different exercises to target the individual rotator cuff muscles.

Ovarian cancer is a malignant ovarian neoplasm (an abnormal growth located on the ovaries). Ovarian cancer is the fifth leading cause of cancer death in women, the leading cause of death from gynecological malignancy, and the second most commonly diagnosed gynecologic malignancy. It is idiopathic, meaning that the exact cause is usually unknown. The disease is more common in industrialized nations, with the exception of Japan. In the United States, females have a 1.4% to 2.5% (1 out of 40-60 women) lifetime chance of developing ovarian cancer. Older women are at highest risk. More than half of the deaths from ovarian cancer occur in women between 55 and 74 years of age and approximately one quarter of ovarian cancer deaths occur in women between 35 and 54 years of age. The risk for developing ovarian cancer appears to be affected by several factors. The more children a woman has, the lower her risk of ovarian cancer. Early age at first pregnancy, older ages of final pregnancy and the use of low dose hormonal contraception have also been shown to have a protective effect. Ovarian cancer is reduced in women after tubal ligation. The link to the use of fertility medication, such as Clomiphene citrate, has been controversial. An analysis in 1991 raised the possibility that use of drugs may increase the risk for ovarian cancer. Several cohort studies and case-control studies have been conducted since then without providing conclusive evidence for such a link. It will remain a complex topic to study as the infertile population differs in parity from the "normal" population. There is good evidence that in some women genetic factors are important. Carriers of certain mutations of the BRCA1 or the BRCA2 gene, more frequent in some populations (e.g. Ashkenazi Jewish women) are at a higher risk of both breast cancer and ovarian cancer, often at an earlier age than the general population. Patients with a personal history of breast cancer or a family history of breast and/or ovarian cancer, especially if at a young age, may have an elevated risk. A strong family history of uterine cancer, colon cancer, or other gastrointestinal cancers may indicate the presence of a syndrome known as hereditary nonpolyposis colorectal cancer (HNPCC, also known as Lynch II syndrome), which confers a higher risk for developing ovarian cancer. Patients with strong genetic risk for ovarian cancer may consider the use of prophylactic oophorectomy after completion of child-bearing. A Swedish study, which followed more than 61,000 women for 13 years, has found a significant link between milk consumption and ovarian cancer. According to the BBC, "[Researchers] found that milk had the strongest link with ovarian cancer - those women who drank two or more glasses a day were at double the risk of those who did not consume it at all, or only in small amounts." Recent studies have shown that women in sunnier countries have a lower rate of ovarian cancer, which may have some kind of connection with exposure to Vitamin D. Other factors that have been investigated, such as talc use, asbestos exposure, high dietary fat content, and childhood mumps infection, are controversial and have not been definitively proven.

Asthma is a chronic disease of the respiratory system in which the airway occasionally constricts, becomes inflamed, and is lined with excessive amounts of mucus, often in response to one or more triggers. These episodes may be triggered by such things as exposure to an environmental stimulant (or allergen), cold air, warm air, moist air, exercise or exertion, or emotional stress. In children, the most common triggers are viral illnesses such as those that cause the common cold.[1] This airway narrowing causes symptoms such as wheezing, shortness of breath, chest tightness, and coughing. The airway constriction responds to bronchodilators. Between episodes, most patients feel well but can have mild symptoms and they may remain short of breath after exercise for longer periods of time than the unaffected individual. The symptoms of asthma, which can range from mild to life threatening, can usually be controlled with a combination of drugs and environmental changes. Public attention in the developed world has recently focused on asthma because of its rapidly increasing prevalence, affecting up to one in four urban children.

Vestibulitis is a condition that causes redness and pain of the vestibule. The vestibule is the smooth skin next to the opening of the vagina or hymeneal ring. Vestibulitis is an inflammation of this skin and the mucous secreting glands found in the skin. The mucous secreting glands are called the lesser vestibular glands. Vestibulitis may include all the area around the opening of the vagina but is most commonly seen in the lower part. Vulvar vestibulitis occurs in women of all ages. It can occur in women who are sexually active and also in women who have never been sexually active. Many women with this problem have suffered physically and emotionally for months or years. Many have seen a number of physicians and have tried several unsuccessful treatments in search for relief. What are the signs and symptoms of Vulvar Vestibulitis? * Severe pain with pressure (for example: biking, exercise, tight-fitting clothes). * Vaginal entry such as tampon use or intercourse. * Burning, stinging, irritation, or raw sensation within the vestibular area. * Vestibular redness. * The urge to urinate frequently or suddenly. How is vulvar vestibulitis diagnosed (identified)? Your doctor or health care provider will examine the vulva and vestibule to identify the common skin changes seen with vulvar vestibulitis. Pain is felt if the vestibule area is touched with a cotton tipped applicator. A sample of vaginal discharge is collected and tested to rule out infection. What is the cause of vulvar vestibulitis? The exact cause is unknown, but many studies are being done to determine the cause of vulvar vestibulitis. The following factors have been associated with vulvar vestibulitis: * HPV (human papilloma virus) * Chronic yeast infections * Chronic bacterial infections * Chronic changes of pH (acid-base balance in the vagina) * Chronic use of chemicals/irritants such as detergents, soaps, spermicides or lubricants.

Acute Myelogenous Leukemia, or AML, is the most common type of leukemia with almost 12,000 people a year newly diagnosed in the United States alone. AML goes by several names, and may also be called acute myeloblastic leukemia, acute myeloid leukemia, acute granulocytic leukemia or acute nonlymphocytic leukemia. As an acute blood cancer, AML is fast growing and affects mostly immature cells in the blood and bone marrow, leading to a deficiency of red blood cells, white blood cells, and platelets. Blasts (immature cells) in the bone marrow that would normally develop into white blood cells undergo uncontrolled and exaggerated growth in AML, and fail to function normally. Their uncontrolled growth blocks the normal production of red blood cells, white blood cells, and platelets. AML typically affects older adults, with children making up less than 10% of people diagnosed with AML. There are 8 subtypes of the disease based on the type of blood cells affected, and treatment and the course of the disease may differ based on subtype. The symptoms of AML are mainly due to the reduced numbers of white blood cells and increased numbers of leukemia cells in the body, and may include tiring easily, shortness of breath, slow healing of cuts, discomfort in joints and/or bones, anemia, fever, and frequent infections. Treatment may include chemotherapy, bone marrow transplant, cord blood transplant, monoclonal antibodies, as well as other developing therapies. While a number of risk factors for AML have been elucidated, the specific cause of AML remains unclear. As an acute leukemia, AML progresses rapidly and is typically fatal in weeks to months if left untreated. Acute myeloid leukemia is a potentially curable disease; however, only a minority of patients are cured with current therapy. AML is treated initially with chemotherapy aimed at inducing a remission; some patients may go on to receive a hematopoietic stem cell transplant. Areas of active research in acute myeloid leukemia include further elucidation of the cause of AML; identification of better prognostic indicators; development of new methods of detecting residual disease after treatment; and the development of new drugs and targeted therapies.

Cleidocranial Dysostosis or Cleidocranial Dysplasia is an inherited disorder of bone development, characterized by absent or incompletely formed collar bones, abnormal shape of the skull with depression of the sagital suture, characteristic facial appearance, short stature, and dental abnormalities.

Alcoholism is the consumption of or preoccupation with alcoholic beverages to the extent that this behavior interferes with the alcoholic's normal personal, family, social, or work life. The chronic alcohol consumption caused by alcoholism can result in psychological and physiological disorders. Alcoholism is one of the world's most costly drug use problems; with the exception of nicotine addiction, alcoholism is more costly to most countries than all other drug use problems combined. While alcohol use is required to trigger alcoholism, the biological mechanism of alcoholism is uncertain. For most people, moderate alcohol consumption poses little danger of addiction. Other factors must exist for alcohol use to develop into alcoholism. These factors may include a person's social environment, emotional health and genetic predisposition. In addition, an alcoholic can develop multiple forms of addiction to alcohol simultaneously such as psychological, metabolic, and neurochemical. Each type of addiction must be treated individually for an alcoholic to fully recover.

1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations,caesiatomi, hearing and vision impairment, and distinct facial features. The disorder is also known as monosomy 1p36. The condition is caused by a genetic deletion (loss of a segment of DNA) on the outermost band on the short arm (p) of chromosome 1. It is one of the most common deletion syndromes. It is estimated that the syndrome occurs in one in every 5,000 to 10,000 births. Knowledge of the disorder has increased a great deal over the last decade, mainly because more patients have been accurately diagnosed and described in international medical literature. Characteristics The facial features in monosomy 1p36 have been considered to be characteristic, although few patients have been diagnosed solely on the basis of facial appearance. These features may include microcephaly, small, possibly slanted, deep-set eyes, a flat nose and nasal bridge, anomalous, low-set and small ears, a small mouth with down-turned corners and a pointed chin. Distinguishing features in another study were a large or late-closing anterior fontanelle (up to 85% of patients) and facial asymmetry. History The first cases of 1p36 deletion syndrome were described in the 1980s. However, since many of these individuals also had other chromosomal imbalances, symptoms varied widely. The reason it took so long to recognize the condition as a distinct chromosome deletion syndrome is that the deletions causing the disorder are too small to be detected in a routine chromosomal analysis. FISH (fluorescent in situ hybridization) and DNA-based technology known as MPLA (multiple ligation probe amplification) used in testing have aided in diagnosing an increasing number of cases since the 1990s.

Pancreatic cancer is a malignant tumour within the pancreatic gland. Each year about 32,000 individuals in the United States are diagnosed with this condition, and more than 60,000 in Europe. Depending on the extent of the tumor at the time of diagnosis, the prognosis is generally regarded as poor, with few victims still alive 5 years after diagnosis, and complete remission still extremely rare. About 95 percent of pancreatic tumors are adenocarcinomas (M8140/3). The remaining 5 percent include other tumors of the exocrine pancreas (e.g. serous cystadenomas), acinar cell cancers, and pancreatic neuroendocrine tumors (such as insulinomas, M8150/1, M8150/3). These tumors have a completely different diagnostic and therapeutic profile, and generally a more favorable prognosis. Signs and symptoms Presentation Early diagnosis of pancreatic cancer is difficult because the symptoms are so non-specific and varied. Common symptoms include epigastric abdominal pain that typically radiates to the back and is relieved by sitting forward (seen in carcinoma of the body or tail of the pancreas), loss of appetite, significant weight loss and painless jaundice, secondary to biliary obstruction (carcinoma of the head of the pancreas). All of these symptoms can be blamed on other causes. Therefore, diagnosis of pancreatic cancer is often late-stage in its development. Jaundice occurs when the tumor grows and pressure obstructs the common bile duct, which runs partially through the head of the pancreas. Tumours of the head of the pancreas (approximately 60% of cases) will more easily give rise to such symptoms. Trousseau's sign (which is a a sign of malignancy: the blood may spontaneously form clots in the portal vessels, the deep veins of the extremities, or the superficial veins anywhere on the body) is found to be associated this cancer Clinical depression has also been associated with pancreatic cancer, sometimes presenting before the cancer is diagnosed. However, the mechanism for this is not known. Predisposing factors Risk factors for pancreatic cancer include: Age Gingivitis or periodontal disease (Dana Farber Cancer Institute of Harvard Medical School study: elevated levels of C-reactive protein, a biomarker for chronic inflammation, and elevated oral bacteria and carcinogenic nitrosamides, which interact with gastric acid, are found, especially in smokers, in pancreatic cancer cases) Male gender African ethnicity Smoking Diets high in meat Obesity Diabetes Chronic pancreatitis has been linked, but is not known to be causal. Occupational exposure to certain pesticides, dyes, and chemicals related to gasoline Family history Helicobacter pylori infection Diagnosis Courvoisier's law defines the presence of jaundice and a painlessly distended gallbladder as strongly indicative of pancreatic cancer, and may be used to distinguish pancreatic cancer from gallstones. Pancreatic cancer is usually discovered during the course of the evaluation of aforementioned symptoms. Liver function tests may show a combination of results indicative of bile duct obstruction (raised bilirubin, γ-glutamyl transpeptidase and alkaline phosphatase levels). CA19-9 (carbohydrate antigen 19.9) is a tumor marker that is frequently elevated in pancreatic cancer. Imaging studies, such as ultrasound or abdominal CT may be used to identify tumors. Endoscopic ultrasound (EUS) is another procedure that can help visualize the tumor and obtain tissue to establish the diagnosis. Recent research indicates that in pancreatic cancer malignancies, the tumor contains markedly higher levels of certain microRNAs (miRNA) than does the patient's benign pancreatic tissue or that found in other healthy pancreases.[citation needed] This paves the way for two possibilities: 1) a more early but likely expensive genetic and biochemical molecular screening test profile, which would be an innovation in this cancer; and 2) also possible new, creative and more effective therapies based on the various microRNA levels. This opens an exciting new front in confronting a very deadly disease. Treatment Treatment of pancreatic cancer depends on the stage of the cancer. Recent advances have made resection (surgical removal) of tumors that were previously unresectable due to blood vessel involvement possible. The Whipple procedure is the most common surgical treatment for cancers involving the head of the pancreas. Fluorouracil, gemcitabine, and erlotinib are the chemotherapeutic drug agents of choice. On the back of the results of a Canadian led Phase III Randomised Controlled trial involving 569 patients with advanced pancreatic cancer, the US FDA has licensed the use of erlotinib (Tarceva) in combination with gemcitabine as a palliative agent for this tumour. This trial compared the action of gemcitabine/erlotinib vs gemcitabine/placebo and demonstrated improved survival rates, improved tumour response and improved progression free survival rates. New trials are now investigating the effect of the above combination in the adjuvant and neoadjuvant setting. In September 2006, it was announced that a new vaccine had been developed to fight pancreatic cancer, with testing on human patients showing promising results. Prognosis Patients diagnosed with pancreatic cancer typically have a poor prognosis partly because the cancer usually causes no symptoms early on, leading to metastatic disease at time of diagnosis. Median survival from diagnosis is around 3 to 6 months; 5-year survival is much less than 5%. With 32,180 new diagnoses in the United States every year, and 31,800 deaths, mortality approaches 99%, giving pancreatic cancer the #1 fatality rate of all cancers and the #4 cancer killer in the United States amongst both men and wome Pancreatic cancer occasionally may result in diabetes. Insulin production is hampered and it has been suggested that the cancer can also prompt the onset of diabetes and vice versa. Prevention Prevention of pancreatic cancer consists of avoiding risk factors when possible. Cigarette smoking is considered to be the most significant and avoidable risk factor for pancreatic cancer. Maintaining a healthy weight and exercising may be helpful. Additionally, increasing consumption of fruits, vegetables, and whole grains while decreasing red meat intake is recommended by the American Cancer Society. The relationship of overall fruit and vegetable consumption with pancreatic cancer has been questioned by several research groups. In 2006 a large prospective cohort study of over 80,000 subjects failed to prove a definite association. The evidence in support of this lies mostly in small case-control studies. In September 2006, a long-term study concluded that taking Vitamin D can substantially cut the risk of pancreatic cancer (as well as other cancers) by up to 50%. More studies of this have been called for. Several studies, including one published June 1, 2007, indicate that B vitamins such as B12, B6, and folate, can reduce the risk of pancreatic cancer when consumed in food, but not when ingested in vitamin tablet form.

# Spinal Stenosis Spinal stenosis is a medical condition in which the spinal canal narrows and compresses the spinal cord and nerves. This is usually due to the natural process of spinal degeneration that occurs with aging. It can also sometimes be caused by spinal disc herniation, osteoporosis, or a tumour. Spinal stenosis may affect the cervical spine, the lumbar spine or both. Lumbar spinal stenosis results in low back pain as well as pain or abnormal sensations in the legs. ### Cervical spinal stenosis The main causes of cervical spinal stenosis (CSS) include cervical spondylosis, diffuse idiopathic skeletal hyperostosis (DISH), or calcification of the posterior longitudinal ligament. CSS is more common in males than females, and is mainly found in the 40-60 year age group. Signs of CSS include spastic gait; upper extremity numbness; upper extremity, lower extremity weakness or both; radicular pain in the upper limb; sphincter disturbances; muscle wasting; sensory deficits; and reflex abnormalities. The best diagnostic and investigative tool is magnetic resonance imaging (MRI), while computed tomograghy (CT) is not useful. If the problem is mild, treatment may be as simple as physical therapy and the use of a cervical collar. If severe, treatments include laminectomy, hemilaminectomy, or decompression. ### Lumbar spinal stenosis The main causes of lumbar spinal stenosis (LSS) include hypertrophy of the facet joints; spondylolisthesis; diffuse idiopathic skeletal hyperostosis (DISH); and degenerative disc disease. Usually, this condition occurs after the age of 50, and both genders are equally affected. Signs of LSS include neurogenic intermittent claudication that causes leg pain, weakness, tingling and loss of deep tendon reflexes. With lumbar spinal stenosis, the patient's pain usually is worse while walking and will feel better after sitting down. The patient is usually more comfortable while leaning forward, such as walking while leaning on a shopping cart. ## Treatment Treatment includes weight loss, and activity modification, such as using a walker to promote a certain posture. Epidural steroid injections may also help relieve the leg pain. If the symptoms are more severe, a laminectomy or foraminotomy may be indicated to take pressure off the spinal nerve. A complicated, nonrandomized analysis of a randomized controlled trail of laminectomy, found "surgically showed substantially greater improvement in pain and function during a period of 2 years than patients treated nonsurgicall". A new procedure, Interspinous Process Decompression (IPD) has recently been approved by the FDA in November of 2005. This procedure promises a less invasive way to treat LSS and maintains motion at the affected level. Recent developments include several new implants used in surgery to treat the symptoms of spinal stenosis, while preserving as much normal motion in the spine as possible. Three newer technologies include the X-Stop, the Wallis, and TOPS implants. These titanium implants act to prevent extension of the stenotic segments and create slight flexion over the segments.

Anencephaly is a cephalic disorder that results from a neural tube defect that occurs when the cephalic (head) end of the neural tube fails to close, usually between the 23rd and 26th day of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain, the largest part of the brain consisting mainly of the cerebral hemispheres (which include the isocortex, which is responsible for higher level cognition, i.e., thinking). The remaining brain tissue is often exposed - not covered by bone or skin. Presentation Infants born with anencephaly are usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brainstem, which controls autonomic and regulatory function, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as breathing and responses to sound or touch may occur. The disorder is one of the most common disorders of the fetal central nervous system. Diagnosis Anencephaly can often be diagnosed before birth through an ultrasound examination. The maternal serum alpha-fetoprotein (AFP screening) and detailed fetal ultrasound can be useful for screening for neural tube defects such as spina bifida or anencephaly. There are many false diagnoses for anencephaly, as it is not a common diagnosis, often confused with exencephaly or microcephaly. Also, sometimes a false prognosis stating that an anencephalic baby can live for years is given, but this cannot occur because the brain is open, meaning that infection sets in rapidly. The anencephalic brain is also usually very disorganised on a cellular level. Prognosis The side view of the above fetus. There is no cure or standard treatment for anencephaly and the prognosis for affected individuals is poor. Most anencephalic babies do not survive birth, accounting for 55% of non-aborted cases. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth from cardiorespiratory arrest. In almost all cases anencephalic infants are not aggressively resuscitated since there is no chance of the infant ever achieving a conscious existence. Instead, the usual clinical practice is to offer hydration, nutrition and comfort measures and to "let nature take its course". Artificial ventilation, surgery (to fix any co-existing congenital defects), and drug therapy (such as antibiotics) are usually regarded as futile efforts. Some clinicians and medical ethicists even view the provision of nutrition and hydration as medically futile, arguing that euthanasia is morally and clinically appropriate in such cases. Rate of occurrence In the United States, approximately 1,000 to 2,000 babies are born with anencephaly each year. Female babies are more likely to be affected by the disorder. About 95% of women who learn that they will have an anencephalic baby choose to have an abortion. Causes The cause of anencephaly is unknown. Neural tube defects do not follow direct patterns of heredity. Studies show that a woman who has had one child with a neural tube defect such as anencephaly, has about a 3% risk to have another child with a neural tube defect. This risk can be reduced to about 1% if the woman takes high dose (4mg/day) folic acid before and during pregnancy. It is known that women taking certain medication for epilepsy and women with insulin dependent diabetes have a higher chance of having a child with a neural tube defect. Genetic counseling is usually offered to women at a higher risk of having a child with a neural tube defect to discuss available testing. Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce, although not eliminate, the incidence of neural tube defects. Therefore, it is recommended that all women of child-bearing age consume 0.4 mg of folic acid daily, especially those attempting to conceive or who may possibly conceive. It is not advisable to wait until pregnancy has begun, since by the time a woman knows she is pregnant, the critical time for the formation of a neural tube defect has usually already passed. A physician may prescribe even higher dosages of folic acid (4 mg/day) for women who have had a previous pregnancy with a neural tube defect.

#Melanoma Melanoma is a malignant tumor of melanocytes which are found predominantly in skin but also in bowel and the eye (see uveal melanoma). It is one of the rarer types of skin cancer but causes the majority of skin cancer related deaths. Despite many years of intensive laboratory and clinical research, the sole effective cure is surgical resection of the primary tumor before it achieves a thickness of greater than 1 mm. Around 160,000 new cases of melanoma are diagnosed worldwide each year, and it is more frequent in males and caucasians. It is more common in white populations living in sunny climates than other groups. According to the WHO Report about 48,000 melanoma related deaths occur worldwide per annum. ## Causes Melanoma is caused by changes in cells called melanocytes, which produce a skin pigment called melanin. Melanin is responsible for skin and hair color. It can appear on normal skin, or it may begin as a mole or other area that has changed in appearance. Some moles that are present at birth may develop into melanomas. * Superficial spreading melanoma is the most common type. It is usually flat and irregular in shape and color, with different shades of black and brown. It is most common in Caucasians. * Nodular melanoma usually starts as a raised area that is dark blackish-blue or bluish-red. However, some do not have any color. * Lentigo maligna melanoma usually occurs in the elderly. It is most common in sun-damaged skin on the face, neck, and arms. The abnormal skin areas are usually large, flat, and tan with areas of brown. * Acral lentiginous melanoma is the least common form. It usually occurs on the palms, soles, or under the nails and is more common in African Americans. Rarely, melanomas appear in the mouth, iris of the eye, or retina at the back of the eye. They may be found during dental or eye examinations. Although very rare, melanoma can also develop in the vagina, esophagus, anus, urinary tract, and small intestine. Melanoma is not as common as other types of skin cancer. However, the rate of melanoma is steadily increasing. The risk of developing melanoma increases with age. However, it is also frequently seen in young people. You are more likely to develop melanoma if you: * Have fair skin, blue or green eyes, or red or blond hair * Live in sunny climates or at high altitudes * Spent a lot of time in high levels of strong sunlight, because of a job or other activities * Have had one or more blistering sunburns during childhood * Use tanning devices Other risk factors include: * Close relatives with a history of melanoma * Coming in contact with cancer-causing chemicals such as arsenic, coal tar, and creosote * Certain types of moles (atypical dysplastic) or multiple birthmarks * Weakened immune system due to disease or medication ## Symptoms A mole, sore, lump, or growth on the skin can be a sign of melanoma or other skin cancer. A sore or growth that bleeds, or changes in skin coloring may also be a sign of skin cancer. The _ABCDE_ system can help you remember possible symptoms of melanoma: *_Asymmetry_: One half of the abnormal area is different from the other half. *_Borders_: The edges of the growth are irregular. *_Color_: Color changes from one area to another, with shades of tan, brown, or black, and sometimes white, red, or blue. A mixture of colors may appear within one sore. *_Diameter_: The spot is usually (but not always) larger than 6 mm in diameter -- about the size of a pencil eraser. *_Evolution_: The mole keeps changing appearance. The key to successfully treating melanoma is recognizing symptoms early. You might not notice a small spot if you don't look carefully. Have yearly body checks by a dermatologist, and examine your skin once a month. Use a hand mirror to check hard-to-see places. Call your doctor if you notice anything unusual. ## Signs and Tests Your doctor will check your skin and look at the size, shape, color, and texture of any suspicious areas. If your doctor thinks you might have skin cancer, a piece of skin will be removed and sent to a lab for examination under a microscope. This is called a skin biopsy. There are different types of skin biopsies. All or part of the growth will be removed. A sentinel lymph node (SLN) biopsy may be done in some people with melanoma to see if the cancer has spread to nearby lymph nodes. Once melanoma has been diagnosed, CT scans or other types of x-ray tests may be done to see if the cancer has spread. ## Treatments Surgery is needed to treat melanoma. The skin cancer and some surrounding tissue will be removed. How much skin is removed depends on how deep the melanoma has grown. If the cancer has spread to nearby lymph nodes, these lymph nodes may also be removed. After surgery, you may receive a medicine called interferon. Treatment is more difficult when the melanoma has spread to other organs. When it spreads to other organs, it usually cannot be cured. Treatment involves shrinking the skin cancer and making you as comfortable as possible. You may receive: *_Chemotherapy_: Medicines are used to kill cancer cells. It is usually given if the melanoma has returned or spread. *_Immunotherapy_: Medications such as interferon or interleukin help your immune system fight the cancer. They may used along with chemotherapy and surgery. *_Radiation treatments_: These may be used to relieve pain or discomfort caused by cancer that has spread. *_Surgery_: Surgery may be done to remove cancer that has spread to other parts of the body. This is done to relieve pain or discomfort associated with the growing cancer. If you have melanoma that is hard to treat, you might consider enrolling in a clinical trial. Ask your doctor for more information. Researchers continue to study new treatments.

Behcet's disease is a chronic condition due to disturbances in the body’s immune system. This system, which normally protects the body against infections through controlled inflammation, becomes overactive and produces unpredictable outbreaks of exaggerated inflammation. This extra inflammation affects blood vessels, usually the small ones. As a result, symptoms occur wherever there is a patch of inflammation, and can be anywhere where there is a blood supply. History Behcet's disease is named after Hulusi Behcet (1889-1948), the Turkish dermatologist and scientist who first recognized the syndrome in one of his patients in 1924 and reported his research on the disease in Journal of Skin and Veneral Diseases in 1936. The name (Morbus Behcet) was formally adopted at the International Congress of Dermatology in Geneva in September 1947. The disease was probably first described by Hippocrates in the 5th century BC, in his 3rd Epidemion-book. Pathology The symptoms of Behcet's disease are believed to be caused by an over-active immune system which, without any apparent infections, produces recurrent outbreaks of inflammation in small blood vessels. Common symptoms include mouth ulcers, sore genitals and eye inflammation, and arthritis in older patients, mostly painful but not life-threatening conditions. However, some patients may be unable to work because of the pain and the impaired vision and mobility. In some severe cases, uncontrolled inflammation may lead to blindness, intestinal complications, stroke, and even meningitis, which can be fatal. This disease usually first strikes patients in their 20s and 30s. It then becomes a fluctuating lifelong disorder with a series of remissions and exacerbations which can be from days to months. Complete remission is rare. Behcet's disease is considered more prevalent in the areas surrounding the old silk trading routes in the Middle East and in Central Asia. Thus, it is sometimes known as Silk Road Disease. However, this disease is not restricted to people from these regions. An estimated 15,000 to 20,000 Americans have been diagnosed with this disease. In the UK, it is estimated to have about 2 cases for every 100,000 people. Globally, males are affected more frequently than females. In the United States, more females are affected than males.

Obsessive-Compulsive Disorder (OCD) is characterized by persistent and upsetting thoughts that the patient tries to control or relieve by participating in repeated and ritualistic behaviors. Both the thoughts (obsessions) and behaviors (compulsions) can interfere with normal everyday activities at work, home, or in social situations. Typically a person suffering from OCD is aware that their obsessions and compulsions are not rational, but some adults and many children suffering from the disorder may not be aware that their behavior is out of the ordinary. Common obsessions in OCD are constant worry about dirt and germs, the need for things to be in an exact place or order, persistent fear of causing harm to another person, and fear of throwing away or losing something. Common compulsions in OCD are repeated and lengthy cleaning, checking on something multiple times in a day, hoarding useless items, and excessively slow and ritualistic approach to daily activities. OCD is less common than generalized anxiety disorder, affecting just over 2 million adults in the US. It affects women and men equally, and symptoms develop in children in approximately one third of the cases. OCD may take a different course in every individual, varying in severity and length of symptoms, and easing or intensifying over time. Most people suffering from OCD respond well to treatment, which may include medication and psychotherapy. People with treatment-resistant OCD may be helped by more aggressive treatments like deep brain stimulation.

Breast cancer is a cancer of the breast tissue. Worldwide, it is the most common form of cancer in females - affecting, at some time in their lives, approximately one out of nine to one out of thirteen women who reach age ninety in the Western world. It is the second most fatal cancer in women (after lung cancer), and the number of cases has significantly increased since the 1970s, a phenomenon partly blamed on modern lifestyles in the Western world. Because the breast is composed of identical tissues in males and females, breast cancer also occurs in males, and as statistics show, it is on a massive increase, hence the mass TV promotions aimed at men at present.

Autoimmune hemolytic anemia (AIHA) is a type of hemolytic anemia where the body's immune system attacks its own red blood cells (RBCs), leading to their destruction (hemolysis). Antibodies and associated complement system components become fixed onto the RBC surface. These antibodies can be detected with the direct antiglobulin test, also known as the direct Coombs test. Autoimmunity must not be confused with alloimmunity. Haemolysis can be intravascular or extravascular. Intravascular haemolysis Red blood cell lysis occurs in the circulation as a result of activation of the complement system cascade. Extravascular haemolysis Red Blood Cells that are coated with antibodies are specifically recognised in the reticuloendothelial system and destroyed by macrophages. Subtypes Warm antibody autoimmune hemolytic anemia Idiopathic Systemic lupus erythematosus Evans' syndrome (antiplatelet antibodies and haemolytic antibodies) Chronic lymphocytic leukemia Drugs (methyldopa) Cold antibody autoimmune hemolytic anemia Idiopathic cold hemagglutinin syndrome Infectious mononucleosis Paroxysmal cold hemoglobinuria (rare) Lymphoma Mixed-type autoimmune hemolytic anemia

Achondroplastic dwarfism is the most common form of short-limbed dwarfism. People with this disorder do not grow to what are considered normal heights and average about four feet tall. Usually, the forehead is large, and the middle part of the face is small. Causes and Risk Factors Achondroplastic dwarfism can be genetically inherited, but about eight out of every 10 cases occur without a family history of the condition. Although people with this condition run a higher risk for certain health problems, they generally live normal, healthy lives. Diagnosis A diagnosis can be determined based on a physical examination and a medical history of the child and his or her family. Treatment Most related problems from this condition can be treated. Increasing height is also possible using specific treatments.

Aarskog Syndrome is an inherited disease characterized by short stature, facial abnormalities, skeletal and genital anomalies. Aarskog Syndrome is also known as shawl scrotum syndrome and faciogenital dysplasia. Aarskog syndrome is transmitted in an X-linked recessive manner. The sons of female carriers are at 50% risk of being affected with the syndrome. The daughters of female carriers are at 50% risk of being carriers themselves. Females may have mild manifestations of the syndrome. The syndrome is caused by mutation in a gene called FGDY1 in band p11.21 on the X chromosome.

# Hives Hives are raised, often itchy, red welts on the surface of the skin. They are usually an allergic reaction to food or medicine. ## Causes, incidence, and risk factors  When you have an allergic reaction to a substance, your body releases histamine and other chemicals into your bloodstream. This causes itching, swelling, and other symptoms. Hives are a common reaction, especially in people with other allergies such as hay fever. When swelling or welts occur around the face, especially the lips and eyes, it is called angioedema. Swelling from angioedema can also occur around your hands, feet, and throat. Many substances can trigger hives, including: * Animal dander (especially cats) * Insect bites * Medications * Pollen * Shellfish, fish, nuts, eggs, milk, and other foods Hives may also develop as a result of: * Emotional stress * Extreme cold or sun exposure * Excessive perspiration * Illness (including lupus, other autoimmune diseases, and leukemia * Infections such as mononucleosis ## Symptoms * Itching * Swelling of the surface of the skin into red- or skin-colored welts (called wheals) with clearly defined edges The hives may get bigger, spread, and join together to form larger areas of flat, raised skin. They can also change shape, disappear, and reappear within minutes or hours. A true hive comes and goes. When you press the center of one, it turns white. This is called blanching. ## Signs and Tests Your doctor can tell if you have hives by looking at your skin. If you have a history of an allergy, then the diagnosis is even more obvious. Occasionally, skin or blood tests are done to confirm that you had an allergic reaction and to test for the substance that caused the allergic response. A skin biopsy can confirm the diagnosis. ## Treatment Treatment may not be needed if the hives are mild. They may disappear on their own. To reduce itching and swelling: * Avoid hot baths or showers. * Avoid irritating the area with tight-fitting clothing. * Take antihistamines. Diphenhydramine is considered most effective, but may make some people tired. Other options include loratadine or cetirizine. If your reaction is severe, especially if the swelling involves your throat, you may require an emergency shot of epinephrine (adrenaline) or steroids. Hives in the throat can block your airway, making it difficult to breathe. ## Expectations Hives may be uncomfortable, but they generally are harmless and disappear on their own. In most cases, the exact cause of hives cannot be identified. ## Complications * Anaphylaxis (a life-threatening, whole-body allergic reaction that causes breathing difficulty) * Swelling in the throat can lead to life-threatening airway blockage ## Calling Your Health Provider Call 911 or your local emergency number if you have: * Fainting * Shortness of breath * Tightness in your throat * Tongue or face swelling * Wheezing Call your health care provider if the hives are severe, uncomfortable, and do not respond to self-care measures.

A condition characterized by the presence of abnormal quantities of CRYOGLOBULINS in the blood. Upon cold exposure, these abnormal proteins precipitate into the microvasculature leading to restricted blood flow in the exposed areas.

Interstitial cystitis (commonly abbreviated to "IC") is a urinary bladder disease of unknown cause characterised by urinary frequency (as often as every 10 minutes), urgency, pressure and/or pain in the bladder and/or pelvis. Pain typically increases as the bladder fills and reduces after voiding however some patients report pain with urination, often in the urethra. Patients may also experience nocturia, pelvic floor dysfunction and tension (thus making it difficult to start their urine stream), pain with sexual intercourse, discomfort and difficulty driving, travelling or working. Research has determined that the quality of life of IC patients is equivalent to end stage renal failure. It is not unusual for patients to have been misdiagnosed with a variety of other conditions, including: overactive bladder, urethritis, urethral syndrome, trigonitis, prostatitis and other generic terms used to describe frequency/urgency symptoms in the urinary tract. IC affects men and women of all cultures, socioeconomics and ages. Although the disease previously was believed to be a condition of menopausal women, growing numbers of men and women are being diagnosed in their twenties and younger. IC is not a rare condition, however IC is more common in females than in men. Early research suggested that IC prevalence ranged from 1 in 100,000 to 5.1 in 1,000 of the general population. New epidemiological data released in 2006 by Dr. Matt Rosenberg now suggests that up to 12% of women may have early symptoms of IC.

Asperger's syndrome (also known as Asperger's disorder, Asperger's, or AS) is a disorder on the autistic spectrum. It manifests in various ways and can have both positive and negative effects on a person. It is typically characterized by issues with social and communication skills. Due to the mixed nature of its effects, it remains controversial among researchers, physicians, and people who are diagnosed with Asperger's Syndrome. Asperger's syndrome is not differentiated from other autistic spectrum disorders by a minority of clinicians who instead refer to it as high-functioning autism (HFA) because the claim that the normal early development and lack of any language delay mean that the symptoms differ only in degree from classic autism. Early in life people with AS can have learning disabilities. However, IQ tests may show superior intelligence or very high memory capacity in diagnosed individuals. The diagnosis of AS is complicated because of the lack of standardized diagnostic criteria. Instead, several different screening instruments and sets of diagnostic criteria are used. AS is often not identified in early childhood, and many individuals are not diagnosed until they are adults. Assistance for core symptoms of AS consists of therapies that apply behavior management strategies and address poor communication skills, obsessive or repetitive routines, and physical clumsiness. Many individuals with AS can adopt strategies for coping and do lead fulfilling lives - being gainfully employed, having successful relationships, and having families. In most cases, they are aware of their differences and can recognize if they need any support to maintain an independent life.

A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA.

# Epstein-Barr Virus Epstein-Barr Virus, (EBV), also called Human herpesvirus 4 (HHV-4), is a virus of the herpes family (which includes Herpes simplex virus and Cytomegalovirus), and is one of the most common viruses in humans. Most people become infected with EBV, which is often asymptomatic but commonly causes infectious mononucleosis. It is named after Michael Epstein and Yvonne Barr, who together with Bert Achong discovered the virus in 1964 ## Pathology ### Infectious mononucleosis Epstein-Barr can cause infectious mononucleosis, also known as 'glandular fever', 'Mono' and 'Pfeiffer's disease'. Infectious mononucleosis is caused when a person is first exposed to the virus during or after adolescence. It is therefore predominantly found in the developed world, as most children in the developing world are found to be already infected by around 18 months of age. EBV antibody tests turn up almost universally positive in developing nations, but only 70-80% positive in the United States. ### EBV-associated malignancies The strongest evidence linking EBV and cancer formation is found in Burkitt's lymphoma and nasopharyngeal carcinoma. It has been postulated to be a trigger for a subset of Chronic Fatigue Syndrome patients as well as Multiple Sclerosis and other autoimmune diseases. Burkitt's lymphoma is a type of Non-Hodgkin's lymphoma and is most common in equatorial Africa and is co-existent with the presence of malaria. Malaria infection causes reduced immune surveillance of EBV immortalised B cells, so allowing their proliferation. This proliferation increases the chance of a mutation to occur. Repeated mutations can lead to the B cells escaping the body's cell-cycle control, so allowing the cells to proliferate unchecked, resulting in the formation of Burkitt's lymphoma. Burkitt's lymphoma commonly affects the jaw bone, forming a huge tumour mass. It responds quickly to chemotherapy treatment, namely cyclophosphamide, but recurrence is common. Other B cell lymphomas arise in immunocompromised patients such as those with AIDS or who have undergone organ transplantation with associated immunosuppression (Post-Transplant Lymphoproliferative Disorder (PTLPD)). Smooth muscle tumors are also associated with the virus in malignent patients. Nasopharyngeal carcinoma is a cancer found in the upper respiratory tract, most commonly in the nasopharynx, and is linked to the EBV virus. It is found predominantly in Southern China and Africa, due to both genetic and environmental factors. It is much more common in people of Chinese ancestry (genetic), but is also linked to the Chinese diet of a high amount of smoked fish, which contain nitrosamines, well known carcinogens (environmental). ### Chronic fatigue syndrome In the late 1980s and early 1990s, EBV became the favored explanation for chronic fatigue syndrome. It was noted that people with chronic exhaustion had EBV, although it was also noted EBV was present in almost everyone. In a four year study, the Centers for Disease Control and Prevention found no definitive association between CFS and EBV but it is still being studied by researchers. ## Other diseases associated with EBV * [Stevens-Johnson syndrome](/pages/conditions/stevens-johnson-syndrome) * [Hepatitis](/pages/conditions/autoimmune-hepatitis) * Herpes * Alice in Wonderland syndrome * Several Non-Hodgkin's lymphomas, including primary cerebral lymphoma * Hodgkin's disease * Post-transplant lymphoproliferative disorder * Herpangina * Multiple Sclerosis * Hairy leukoplakia * Common variable immunodeficiency (CVID) * Kikuchi's disease

Large granular lymphocyte (LGL) leukemia is an indolent non-Hodgkin Lymphoma. It is a chronic leukemia of T lymphocytes -- white blood cells that originate in the lymph system and in the bone marrow, and that help fight infection. Rarely, LGL leukemia is a disease of natural killer cells, which are lymphocytes that normally attack tumor cells. The disease usually affects people in their sixties. Symptoms include anemia, low levels of platelets and infection-fighting neutrophils in the blood (conditions called, respectively, thrombocytopenia and neutropenia), and an enlarged spleen. Doctors diagnose this disease through a biopsy of the bone marrow, or by using flow cytometric analysis of the circulating blood or bone marrow cells, a procedure in which various types of blood or bone marrow cells are separated, identified, and counted. Treatment usually involves chemotherapy, sometimes granulocyte-colony stimulating factor (G-CSF), and possibly surgery to remove the spleen. A closely related T-lymphocyte disorder is called T gamma disease; it is essentially the same as LGL leukemia. T-cell chronic leukemia is an older diagnostic term used to describe a number of different diseases including LGL leukemia and T-cell lymphomas. Analysis of the blood or bone marrow by flow cytometry or special staining of the biopsied tissue often leads to a more precise diagnosis.

Growth hormone deficiency is the medical condition of inadequate production of growth hormone (GH) and its effects on children and adults. Growth hormone, also called somatotropin, is a polypeptide hormone which stimulates growth and cell reproduction. See separate articles on GH physiology and GH treatment. Deficiency of GH produces significantly different problems at various ages. In newborn infants the primary manifestations may be hypoglycemia or micropenis. In later infancy and childhood, growth failure may be major effect. Adults with growth hormone deficiency may have diminished lean body mass and poor bone density and a number of physical and psychological symptoms, including poor memory, social withdrawal, and even depression. Abnormally low growth hormone levels in adults typically result in diminished quality of life and can even be disabling. Physical symptoms include loss of strength, stamina, and musculature. Adults suffering from these symptoms should seek laboratory testing by an endocrinologist. Other hormonal or glandular disorders frequently coincide with diminished growth hormone production. GH deficiency can be congenital or acquired in childhood or adult life. It can be partial or complete. It is usually permanent, but sometimes transient. It may be an isolated deficiency or occur in association with deficiencies of other pituitary hormones. GH deficiency is treated by growth hormone replacement.

Meniere's Disease is a disorder of the inner ear that can affect hearing and balance. It is characterized by episodes of dizziness and tinnitus and progressive hearing loss, usually in one ear. It is caused by an increase in volume and pressure of the endolymph of the inner ear. It is named after the French physician Prosper Ménière, who first reported that vertigo was caused by inner ear disorders in an article published in 1861. Symptoms The symptoms of Meniere's are variable; not all sufferers experience the same symptoms. However, so-called "classic Meniere's" is considered to comprise the following four symptoms: * Periodic episodes of rotary vertigo (the abnormal sensation of movement) or dizziness. * Fluctuating, progressive, unilateral (in one ear) or bilateral (in both ears) hearing loss, often initially in the lower frequency ranges. * Unilateral or bilateral tinnitus (the perception of noises, often ringing, roaring, or whooshing), sometimes variable. * A sensation of fullness or pressure in one or both ears. Meniere's often begins with one symptom, and gradually progresses. A diagnosis may be made in the absence of all four classic symptoms. Attacks of vertigo can be severe, incapacitating, and unpredictable. In some patients, attacks of vertigo can last for hours or days, and may be accompanied by an increase in the loudness of tinnitus and temporary, albeit significant, hearing loss in the affected ear(s). Hearing may improve after an attack, but often becomes progressively worse. Vertigo attacks are sometimes accompanied by nausea, vomiting, and sweating. Some sufferers experience what are informally known as "drop attacks" — a sudden, severe attack of dizziness or vertigo that causes the sufferer, if not seated, to fall. Patients may also experience the feeling of being pushed or pulled (Pulsion). Some patients may find it impossible to get up for some time, until the attack passes or medication takes effect. There is also the risk of injury from falling. In addition to hearing loss, sounds can seem tinny or distorted, and patients can experience unusual sensitivity to noises (hyperacusis). Some sufferers also experience nystagmus, or uncontrollable rhythmical and jerky eye movements, usually in the horizontal plane, reflecting the essential role of the balance system in coordinating eye movements. Other symptoms include so-called "brain fog" (temporary loss of short term memory, forgetfulness, and confusion), exhaustion and drowsiness, headaches, vision problems, and depression. Many of these latter symptoms are common to many chronic diseases. Cause The exact cause of Meniere's disease is not known, but it is believed to be related to endolymphatic hydrops or excess fluid in the inner ear. It is thought that endolymphatic fluid bursts from its normal channels in the ear and flows into other areas causing damage. This may be related to swelling of the endolymphatic sac or other issues in the vestibular system of the inner ear, which is responsible for the body's sense of balance. The symptoms may occur in the presence of a middle ear infection, head trauma or an upper respiratory tract infection, or by using aspirin, smoking cigarettes or drinking alcohol. They may be further exacerbated by excessive consumption of caffeine and salt in some patients. Diagnosis Many disorders have symptoms similar to Meniere's. The diagnosis is usually established by clinical findings and medical history. However, a detailed oto-neurological examination, audiometry and head magnetic resonance imaging (MRI) scan should be performed to exclude a tumour of the cranial nerve VIII (vestibulocochlear nerve) which would cause similar symptoms. Because there is no definitive test for Ménière's, it is only diagnosed when all other causes have been ruled out. Meniere's typically begins between the ages of 20 and 50 and is equally prevalent in men and women. Treatment Initial treatment is aimed at both dealing with immediate symptoms and preventing recurrence of symptoms, and so will vary from patient to patient. Doctors may recommend vestibular training, methods for dealing with tinnitus, stress reduction, hearing aids to deal with hearing loss, and medication to alleviate nausea and symptoms of vertigo. Several environmental and dietary changes are thought to reduce the frequency or severity of symptom outbreaks. Most patients are advised to adopt a low-sodium diet, typically one to two grams (1000-2000mg) at first, but diets as low as 400mg are not uncommon. Patients are advised to avoid caffeine, alcohol and tobacco, all of which can aggravate symptoms of Meniere's. Some recommend avoiding Aspartame. Patients are often prescribed a mild diuretic (sometimes vitamin B6). Many patients will have allergy testing done to see if they are candidate for allergy desensitization as allergies have been shown to aggravate Meniere's symptoms. Women may experience increased symptoms during pregnancy or shortly before menstruation, probably due to increased fluid retention. Lipoflavanoid is also recommended for treatment by some doctors. Many patients consider fluorescent lighting to be a trigger for symptoms. The plausibility of this can be explained by how important a part vision plays in the overall mechanism of human balance. Treatments aimed at lowering the pressure within the inner ear include antihistamines, anticholinergics, steroids, and diuretics. A medical device that provides transtympanic micropressure pulses is now showing some promise and is becoming more widely used as a treatment for Meniere's. Surgery may be recommended if medical management does not control vertigo. Injection of steroid medication behind the eardrum, or surgery to decompress the endolymphatic sac may be used for symptom relief. Permanent surgical destruction of the balance part of the affected ear can be performed for severe cases if only one ear is affected. This can be achieved through chemical labyrinthectomy, in which a drug (such as gentamicin) that "kills" the vestibular apparatus is injected into the middle ear. The nerve to the balance portion of the inner ear can be cut (vestibular neurectomy), or the inner ear itself can be surgically removed (labyrinthectomy). These treatments eliminate vertigo, but because they are destructive, they are used only as a last resort. Typically balance returns to normal after these procedures, but hearing loss may continue to progress. Progression Progression of Meniere's is unpredictable: symptoms may worsen, disappear altogether, or remain the same. Sufferers whose Meniere's began with one or two of the classic symptoms may develop others with time. Attacks of vertigo can become worse and more frequent over time, resulting in loss of employment, loss of the ability to drive, and inability to travel. Some patients become largely housebound. Hearing loss can become more profound and may become permanent. Some patients become deaf in the affected ear. Tinnitus can also worsen over time. Some patients with unilateral symptoms, as many as fifty percent by some estimates, will develop symptoms in both ears. Some of these will become totally deaf. Yet the disease may end spontaneously and never repeat again. Some sufferers find that after eight to ten years their vertigo attacks gradually become less frequent and less severe; in some patients they disappear completely. In some patients, symptoms of tinnitus will also disappear, and hearing will stabilize (though usually with some permanent loss).

Bladder cancer refers to any of several types of malignant growths of the urinary bladder. It is a disease in which abnormal cells multiply without control in the bladder. The bladder is a hollow, muscular organ that stores urine; it is located in the pelvis. The most common type of bladder cancer begins in cells lining the inside of the bladder and is called urothelial cell or transitional cell carcinoma (UCC or TCC). Risk factors Exposure to environmental carcinogens of various types is responsible for the development of most bladder cancers. Tobacco abuse (specifically cigarette smoking) is thought to cause 50% of bladder cancers discovered in male patients and 30% of those found in female patients. Thirty percent of bladder tumors probably result from occupational exposure in the workplace to carcinogens such as benzidine. Certain drugs such as cyclophosphamide and phenacetin are known to predispose to bladder TCC. Chronic bladder irritation (infection, bladder stones, catheters, bilharzia) predisposes to squamous cell carcinoma of the bladder. Approximately 20% of bladder cancers occur in patients without predisposing risk factors. Bladder cancer is not currently believed to be heritable (i.e., does not "run in families" as a consequence of a specific genetic abnormality). Signs and symptoms Bladder cancer characteristically causes blood in the urine, this may be visible to the naked eye (frank haematuria) or detectable only be microscope (microscopic haematuria). Other possible symptoms include pain during urination, frequent urination or feeling the need to urinate without results. These signs and symptoms are not specific to bladder cancer, and are also caused by non-cancerous conditions, including prostate infections and cystitis. Pathological Classification 90% of bladder cancer are transitional cell carcinomas (TCC) that arise from the inner lining of the bladder called the urothelium. The other 10% of tumours are squamous cell carcinoma, adenocarcinoma, sarcoma, small cell carcinoma and secondary deposits from cancers elsewhere in the body. TCCs are often multifocal, with 30-40% of patients having a more than one tumour at diagnosis. The pattern of growth of TCCs can be papillary, sessile (flat)or carcinoma-in-situ (CIS). The 1973 WHO grading system for TCCs (papilloma, G1, G2 or G3) is most commonly used despite being superseded by the 2004 WHO [1] grading (papillary neoplasm of low malignant potential (PNLMP), low grade and high grade papillary carcinoma. CIS invariably consists of cytologically high grade tumour cells. Bladder TCC is staged according to the 1997 TNM system: * Ta Non-invasive papillary tumour * T1 Invasive but not as far as the muscular bladder layer * T2 Invasive into the muscular layer * T3 Invasive beyobd the muscle into the fat outside the bladder * T4 Invasive into surrounding structures like the prostate, uterus or pelvic wall Treatment The treatment of bladder cancer depends on how deep the tumor invades into the bladder wall. Superficial tumors (those not entering the muscle layer) can be "shaved off" using an electrocautery device attached to a cystoscope. Immunotherapy in the form of BCG instillation is also used to treat and prevent the recurrence of superficial tumors. BCG immunotherapy is effective in up to 2/3 of the cases at this stage. Instillations of chemotherapy into the bladder can also be used to treat superficial disease. Untreated, superficial tumors may gradually begin to infiltrate the muscular wall of the bladder. Tumors that infiltrate the bladder require more radical surgery where part or all of the bladder is removed (a cystectomy) and the urinary stream is diverted. In some cases, skilled surgeons can create a substitute bladder (a neobladder) from a segment of intestinal tissue, but this largely depends upon patient preference, age of patient, renal function, and the site of the disease. A combination of radiation and chemotherapy can also be used to treat invasive disease, and, in many cases, it is not yet known which is the better treatment - radiotherapy or radical ablative surgery. There is weak observational evidence from one very small study (84) to suggest that the concurrent use of statins is associated with failure of BCG immunotherapy. Epidemiology In the United States, bladder cancer is the fourth most common type of cancer in men and the ninth most common cancer in women. More than 47,000 men and 16,000 women are diagnosed with bladder cancer each year. One reason for its higher incidence in men is that a molecular receptor or protein that is much more active in men than women plays a role in the development of the disease. Genetics Bladder cancer is not linked to specific genes; however some which are more prominently studied include the FGFR3, HRAS, RB1 and TP53 genes. As with most cancers, the exact causes of bladder cancer are not known; however, many risk factors are associated with this disease. Chief among them are smoking, followed by exposure to certain chemicals. Mutations in the gene that arise in the bladder are another important risk factor for developing bladder cancer. Several genes have been identified which play a role in regulating the cycle of cell division, preventing cells from dividing too rapidly or in an uncontrolled way. Alterations in these genes may help explain why some bladder cancers grow and spread more rapidly than others. Bladder cancer is generally not inherited; tumors usually result from genetic mutations that occur in certain bladder cells during a person's lifetime. These noninherited genetic changes are called somatic mutations. A family history of bladder cancer is, however, a risk factor for the disease. Along these lines, some people appear to inherit a reduced ability to break down certain chemicals, which makes them more sensitive to the cancer-causing effects of tobacco smoke and certain industrial chemicals.

chronic hardening and thickening of the skin caused by swelling and thickening of fibrous tissue leading to eventual atrophy of the epidermis; can occur as a localized or a systemic disease.

Pseudohypoparathyroidism is a condition caused by resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level is appropriately high. Type 1a pseudohypoparathyroidism has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a rounded facies. Type 1b pseudohypoparathyroidism lacks the physical appearance of type 1a, but is biochemically similar. The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal.

Cerebral palsy is a group of disorders that affect a person's ability to move and to maintain balance and posture. The disorders appear in the first few years of life. Usually they do not get worse over time. People with cerebral palsy may have difficulty walking. They may also have trouble with tasks such as writing or using scissors. Some have other medical conditions, including seizure disorders or mental impairment. Cerebral palsy happens when the areas of the brain that control movement and posture do not develop correctly or get damaged. Early signs of cerebral palsy usually appear before 3 years of age. Babies with cerebral palsy are often slow to roll over, sit, crawl, smile or walk. Some babies are born with cerebral palsy; others get it after they are born. There is no cure for cerebral palsy, but treatment can improve the lives of those who have it. Treatment includes medicines, braces, and physical, occupational and speech therapy. National Institute of Neurological Disorders and Stroke

Menkes disease (also called the kinky hair disease or Menkes kinky hair syndrome) is a disorder that affects copper levels in the body. It is characterized by sparse and coarse hair, growth failure, and deterioration of the nervous system. Onset of Menkes syndrome typically begins during infancy. Signs and symptoms of this disorder include weak muscle tone (hypotonia), sagging facial features, seizures, mental retardation, and developmental delay. The patients have brittle hair and metaphyseal widening. In rare cases, symptoms begin later in childhood and are less severe. It is a X-linked recessive disorder, therefore males have the disease, while females are carriers. It was originally described by Menkes et al in 1962. Occipital horn syndrome (sometimes called X-linked cutis laxa), is a mild form of Menkes syndrome that begins in early to middle childhood. It is characterized by calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose skin and joints. Epidemiology The estimated incidence of Menkes disease is between 1 in 30,000 and 1 in 250,000. Symptoms Affected infants may be born prematurely. Symptoms appear during infancy and are largely a result of abnormal intestinal copper absorption with secondary deficiency in copper-dependent mitochonrial enzymes. Normal or slightly slowed development may proceed for 2 to 3 months, and then there will be severe developmental delay and a loss of early developmental skills. Menkes Disease is also characterized by seizures, failure to thrive, subnormal body temperature, and strikingly peculiar hair, which is kinky, colorless or steel-colored, and easily broken. There can be extensive neurodegeneration in the gray matter of the brain.[2] Arteries in the brain can also be twisted with frayed and split inner walls. This can lead to rupture or blockage of the arteries. Weakened bones (osteoporosis) may result in fractures. Prognosis The prognosis for individuals with Menkes disease is poor. Most children with Menkes Disease die within the first decade of life. Treatment Early treatment with subcutaneous (under the skin) or intravenous (in a vein) injections of copper supplements (in the form of acetate salts) may be of some benefit. Other treatment is symptomatic and supportive. Genetics Mutations in the ATP7A gene cause Menkes syndrome. As the result of a mutation in the ATP7A gene, copper is poorly distributed to cells in the body. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels and the nervous system. This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome (one of the two sex chromosomes). In males, who have only one X chromosome, one altered copy of the gene in each cell is sufficient to cause the condition. In females, who have two X chromosomes, a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. About one-third of cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

This community is for people to share their experiences with weight loss and to support other members with their goals to reduce their weight and live healthier lives.

Diabetes mellitus type 1 is a form of diabetes mellitus. Type 1 diabetes (formerly known as "childhood," "juvenile," or "insulin-dependent" diabetes) is most commonly diagnosed in children and adolescents. The adult incidence of Type 1 is similar to that for children, which is one of the reasons for changing the preferred term. Many adults diagnosed with Type 1 have been misdiagnosed as Type 2, which has partly accounted for the misconception of Type 1 as a disease of children. The most important forms of diabetes are characterized by decreases in, or the complete absence of, the production of insulin (Type 1 diabetes), or decreased sensitivity of body tissues to insulin (type 2 diabetes). The most useful laboratory test to distinguish Type 1 from Type 2 diabetes is the C-peptide assay, which is a measure of endogenous insulin production since external insulin (to date) has included no C-peptide. Lack of insulin resistance, determined by a glucose tolerance test, would also be suggestive of Type 1. Many Type 2 diabetics still produce some insulin internally, and all have some degree of insulin resistance. Testing for GAD 65 antibodies has been suggested to be the best test for differentiating between Type 1 and Type 2 diabetes. C peptide is not absent in Type 1 diabetes until absolutely no insulin is being produced.

Esophageal cancer is malignancy of the esophagus. There are various subtypes. Esophageal tumors usually lead to dysphagia (difficulty swallowing), pain and other symptoms, and are diagnosed with biopsy. Small and localized tumors are treated with surgery, and advanced tumors are treated with chemotherapy, radiotherapy or combinations. Prognosis depends on the extent of the disease and other medical problems, but is fairly poor. Classification Esophageal cancers are typically carcinomas, which arise from the epithelium, or surface lining of the esophagus. Most esophageal cancer fall into one of two classes: squamous cell carcinomas, which are similar to head and neck cancer in their appearance and association with tobacco and alcohol consumption, and adenocarcinomas, which are often associated with a history of gastroesophageal reflux disease and Barrett's esophagus. Signs and symptoms Dysphagia (difficulty swallowing) is the first symptom in most patients. Odynophagia (painful swallowing) may be present. Fluids and soft foods are usually tolerated, while hard or bulky substances (such as bread or meat) cause much more difficulty. Substantial weight loss is characteristic as a result of poor nutrition and the active cancer. Pain, often of a burning nature, may be severe and worsened by swallowing, and can be spasmodic in character. An early sign may be an unusually husky or raspy voice. The presence of the tumor may disrupt normal peristalsis (the organised swallowing reflex), leading to nausea and vomiting, regurgitation of food, coughing and an increased risk of aspiration pneumonia. The tumor surface may be fragile and bleed, causing hematemesis (vomiting up blood). Compression of local structures occurs in advanced disease, leading to such problems as superior vena cava syndrome. Fistulas may develop between the esophagus and the trachea, increasing the pneumonia risk; this symptom is usually heralded by cough, fever or aspiration. If the disease has spread to elsewhere, this may lead to symptoms related to this: liver metastasis could cause jaundice and ascites, lung metastasis could cause shortness of breath, pleural effusions, etc.

Wegener's granulomatosis is a form of vasculitis that affects the lungs, kidneys and other organs. Due to its end-organ damage, it can be a serious disease that requires long-term immune suppression. It is part of a larger group of vasculitic syndromes that all feature the presence for an abnormal type of circulating antibody termed ANCAs (antineutrophil cytoplasmic antibodies) and affect small and medium-sized blood vessels. Apart from Wegener's, it includes Churg-Strauss syndrome and microscopic polyangiitis. Signs and symptoms Initial signs are protean, and diagnosis can be severely delayed due to the non-specific nature of the symptoms. The rhinitis is generally the first sign in most patients. * Upper airway, eye and ear disease: o Nose: pain, stuffiness, nosebleeds, rhinitis, crusting, saddle-nose deformity due to a perforated septum o Ears: conductive hearing loss due to Eustachian tube dysfunction, sensorineural hearing loss (unclear mechanism) o Eyes: pseudotumours, scleritis, conjunctivitis, uveitis, episcleritis * Airways: o Trachea: subglottal stenosis o Lungs: pulmonary nodules, infiltrates (often interpreted as pneumonia), cavitary lesions, pulmonary hemorrhage causing hemoptysis), and rarely bronchial stenosis. * Kidney: rapidly progressive segmental necrotising glomerulonephritis (75%), leading to chronic renal failure * Arthritis: Pain or swelling (60%), often initially diagnosed as rheumatoid arthritis * Skin: nodules on the elbow, purpura, various others (see cutaneous vasculitis) * Nervous system: occasionally sensory neuropathy (10%) and rarely mononeuritis multiplex * Heart, gastrointestinal tract, brain other organs: rarely affected. Diagnosis Vasculitis such as Wegener's granulomatosis is usually only suspected when a patient has had unexplained symptoms for a longer period of time. Determination of ANCAs can aid in the diagnosis, but positivity is not conclusive and negative ANCAs are not sufficient to reject the diagnosis. Cytoplasmic staining ANCAs that react with the enzyme proteinase 3 (cANCA) in neutrophils (a type of white blood cell) are associated with Wegener's. If the patient has renal failure or cutaneous vasculitis, these are the most logical organs to obtain a biopsy from. Rarely, thoracoscopic lung biopsy is required. On histopathological examination, a biopsy will show leukocytoclastic vasculitis with necrotic changes and granulomatous inflammation (clumps of typically arranged white blood cells) on microscopy. The latter is the main reason for the appellation of "Wegener's granulomatosis", although it is not an essential feature. Unfortunately, many biopsies can be aspecific and 50% provide too little information for the diagnosis of Wegener's. Differential diagnosis (alternative possible diagnoses) can be extensive. ANCAs can be positive after the use of certain drugs, and other forms of vasculitis can present with very similar symptoms. The saddle nose deformity may also seen in cocaine abuse and in congenital syphilis.

Eczema is a form of dermatitis, or inflammation of the upper layers of the skin. The term eczema is broadly applied to a range of persistent or recurring skin rashes characterized by redness, skin edema, itching and dryness, with possible crusting, flaking, blistering, cracking, oozing or bleeding. Areas of temporary skin discoloration sometimes characterize healed lesions, though scarring is rare.

A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders.

Sjogren's syndrome is an autoimmune disorder in which immune cells attack and destroy the exocrine glands that produce tears and saliva. It is named after Swedish ophthalmologist Henrik Sjogren (1899-1986), who first described it. Sjogren's syndrome is also associated with rheumatic disorders such as rheumatoid arthritis, and it is rheumatoid factor positive in 90 percent of cases. The hallmark symptoms of the disorder are dry mouth and dry eyes (part of what are known as sicca symptoms). In addition, Sjogren's syndrome may cause skin, nose, and vaginal dryness, and may affect other organs of the body, including the kidneys, blood vessels, lungs, liver, pancreas, and brain. Nine out of ten Sjogren's patients are women and the average age of onset is late 40s, although Sjogren's occurs in all age groups in both women and men. It is estimated to strike as many as 4 million people in the United States alone making it the second most common autoimmune rheumatic disease. Diagnosis Diagnosing Sjogren’s syndrome is complicated by the range of symptoms a patient may manifest, and the similarity between symptoms from Sjogren's syndrome and those caused by other conditions. Nevertheless, the combination of several tests can lead to a diagnosis of Sjogren's syndrome. Blood tests can be done to determine if a patient has high levels of antibodies that are indicative of the condition, such as anti-nuclear antibody (ANA) and rheumatoid factor, which are associated with autoimmune diseases. Typical Sjogren syndrome ANA patterns are SSA/Ro and SSB/La, of which SSB/La is far more specific; SSA/Ro is associated with numerous other autoimmune conditions but are often present in Sjögren's (Franceschini & Cavazzana I 2005). The Schirmer test measures the production of tears: a strip of filter paper is held inside the lower eyelid for five minutes, and its wetness is then measured with a ruler. A slit-lamp examination is done to look for dryness on the surface of the eye. Salivary gland function can be tested by collecting saliva and determining the amount produced. A lip biopsy can reveal lymphocytes clustered around salivary glands, and damage to these glands due to inflammation. A radiological procedure can also be used as a reliable and accurate way of diagnosing Sjögren's syndrome. A contrast is injected into Stensen's Duct (i.e., parotid duct, Steno's Duct), which is a duct opening from the cheek into the vestibule of the mouth opposite the neck of the upper second molar tooth. Widespread puddling of the injected contrast scattered throughout the gland indicates Sjögren's syndrome. Treatment There is neither a known cure for Sjögren's syndrome nor a specific treatment to permanently restore gland secretion. Instead, treatment is generally symptomatic and supportive. Moisture replacement therapies such as artificial tears may ease the symptoms of dry eyes (some patients with more severe problems use goggles to increase local humidity or have punctal plugs inserted to help retain tears on the occular surface for a longer time). Additionally, Cyclosporin (Restasis) is available by prescription to help treat chronic dry eye by suppressing the inflammation that disrupts tear secretion. Prescription drugs are also available that help to stimulate salivary flow, such as cevimeline and pilocarpine. Nonsteroidal anti-inflammatory drugs may be used to treat musculoskeletal symptoms. For individuals with severe complications, corticosteroids or immunosuppressive drugs may be prescribed. Also, disease-modifying antirheumatic drugs (DMARDs) such as methotrexate may be helpful. Prognosis Sjögren's can damage vital organs of the body with symptoms that may plateau, worsen, or go into remission. Some people may experience only the mild symptoms of dry eyes and mouth, while others go through cycles of good health followed by severe disease. Many patients are able to treat problems symptomatically. Others are forced to cope with blurred vision, constant eye discomfort, recurrent mouth infections, swollen parotid glands, hoarseness, and difficulty in swallowing and eating. Debilitating fatigue and joint pain can seriously impair quality of life. Epidemiology Sjogren's syndrome affects 1-4 million people in the United States. Most people are more than 40 years old at the time of diagnosis. Women are 9 times more likely to have Sjogren's syndrome than men.

In gastroenterology, irritable bowel syndrome (IBS) or spastic colon, is a functional bowel disorder characterized by abdominal pain and changes in bowel habits which are not associated with any abnormalities seen on routine clinical testing. It is fairly common and makes up 20–50% of visits to gastroenterologists. Lower abdominal pain, and bloating associated with alteration of bowel habits and abdominal discomfort relieved with defecation are the most frequent symptoms. The abdominal pain type is usually described in a patient as either diarrhea-predominant (IBS-D), constipation-predominant (IBS-C) or IBS with alternating stool pattern (IBS-A). In some individuals, IBS may have an acute onset and develop after an infectious illness characterised by two or more of the following: fever, vomiting, acute diarrhea, positive stool culture. This post-infective syndrome has consequently been termed "post-infectious IBS" (IBS-PI) and is acute onset Rome II criteria positive. This condition is more homogenous, being mostly IBS-D and is drawing much clinical investigation. Chronic functional abdominal pain (CFAP) is quite similar to, but less common than IBS. CFAP can be diagnosed if there is no change in bowel habits. Because of the name, IBS can be confused with inflammatory bowel disease (IBD).

Human immunodeficiency virus. A non-taxonomic and historical term referring to any of two species, specifically HIV-1 and/or HIV-2. Prior to 1986, this was called human T-lymphotropic virus type III/lymphadenopathy-associated virus (HTLV-III/LAV). From 1986-1990, it was an official species called HIV. Since 1991, HIV was no longer considered an official species name; the two species were designated HIV-1 and HIV-2.

A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the NEUROMUSCULAR JUNCTION, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)

A brain tumor is any intracranial tumor created by abnormal and uncontrolled cell division, normally either in the brain itself (neurons, glial cells (astrocytes, oligodendrocytes, ependymal cells), lymphatic tissue, blood vessels), in the cranial nerves (myelin-producing Schwann cells), in the brain envelopes (meninges), skull, pituitary and pineal gland, or spread from cancers primarily located in other organs (metastatic tumors). Primary (true) brain tumors are commonly located in the posterior cranial fossa in children and in the anterior two-thirds of the cerebral hemispheres in adults, although they can affect any part of the brain. In the United States in the year 2005, it was estimated that there were 43,800 new cases of brain tumors (Central Brain Tumor Registry of the United States, Primary Brain Tumors in the United States, Statistical Report, 2005 - 2006), which accounted for 1.4 percent of all cancers, 2.4 percent of all cancer deaths, and 20–25 percent of pediatric cancers. Ultimately, it is estimated that there are 13,000 deaths/year as a result of brain tumors. Classification Primary tumors Tumors occurring in the brain include: astrocytoma, pilocytic astrocytoma, dysembryoplastic neuroepithelial tumor, oligodendrogliomas, ependymoma, glioblastoma multiforme, mixed gliomas, oligoastrocytomas, medulloblastoma, retinoblastoma, neuroblastoma, and teratoma. Most primary brain tumors originate from glia (gliomas), astrocytes (astrocytomas), oligodendrocytes (oligodendrogliomas), or ependymal cells (ependymoma). There are also mixed forms, with both an astrocytic and an oligodendroglial cell component. These are called mixed gliomas or oligoastrocytomas. Additionally, mixed glio-neuronal tumors (tumors displaying a neuronal, as well as a glial component, e.g. gangliogliomas, disembryoplastic neuroepithelial tumors) and tumors originating from neuronal cells (e.g. gangliocytoma, central gangliocytoma) can also be encountered. Other varieties of primary brain tumors include: primitive neuroectodermal tumors (PNET, e.g. medulloblastoma, medulloepithelioma, neuroblastoma, retinoblastoma, ependymoblastoma), tumors of the pineal parenchyma (e.g. pineocytoma, pineoblastoma), ependymal cell tumors, choroid plexus tumors, neuroepithelial tumors of uncertain origin (e.g. gliomatosis cerebri, astroblastoma), etc. From a histological perspective, astrocytomas, oligondedrogliomas, and oligoastrocytomas may be benign or malignant. Glioblastoma multiforme represents the most aggressive variety of malignant glioma. At the opposite end of the spectrum, there are so-called pilocytic astrocytomas, a distinct variety of astrocytic tumors. The majority of them are located in the posterior cranial fossa, affect mainly children and young adults, and have a clinically favorable course and prognosis. Teratomas also may have a favorable prognosis. Another type of primary intracranial tumor is primary cerebral lymphoma, also known as primary CNS lymphoma, which is a type of non-Hodgkin's lymphoma that is much more prevalent in those with severe immunosuppression, e.g. AIDS. In contrast to other types of cancer, primary brain tumors rarely metastasize, and in this rare event, the tumor cells spread within the skull and spinal canal through the cerebrospinal fluid, rather than via bloodstream to other organs. There are various classification systems currently in use for primary brain tumors, the most common being the World Health Organization (WHO) brain tumor classification, introduced in 1993. Secondary tumors and non-tumor lesions Secondary or metastatic brain tumors originate from malignant tumors (cancers) located primarily in other organs. Their incidence is higher than that of primary brain tumors. The most frequent types of metastatic brain tumors originate in the lung, skin (malignant melanoma), kidney (hypernephroma), breast (breast carcinoma), and colon (colon carcinoma). These tumor cells reach the brain via the blood-stream. Some non-tumoral lesions can mimic tumors of the central nervous system. These include tuberculosis of the brain, cerebral abscess (commonly in toxoplasmosis), and hamartomas (for example, in tuberous sclerosis and von Recklinghausen neurofibromatosis). Symptoms of brain tumors may depend on two factors: tumor size (volume) and tumor location. The time point of symptom onset in the course of disease correlates in many cases with the nature of the tumor ("benign", i.e. slow-growing/late symptom onset, or malignant, i.e. fast growing/early symptom onset). Many low-grade (benign) tumors can remain asymptomatic (symptom-free) for years and they may accidentally be discovered by imaging exams for unrelated reasons (such as a minor trauma). New onset of epilepsy is a frequent reason for seeking medical attention in brain tumor cases. Large tumors or tumors with extensive perifocal swelling edema inevitably lead to elevated intracranial pressure (intracranial hypertension), which translates clinically into headaches, vomiting (sometimes without nausea), altered state of consciousness (somnolence, coma), dilatation of the pupil on the side of the lesion (anisocoria), papilledema (prominent optic disc at the funduscopic examination). However, even small tumors obstructing the passage of cerebrospinal fluid (CSF) may cause early signs of increased intracranial pressure. Increased intracranial pressure may result in herniation (i.e. displacement) of certain parts of the brain, such as the cerebellar tonsils or the temporal uncus, resulting in lethal brainstem compression. In young children, elevated intracranial pressure may cause an increase in the diameter of the skull and bulging of the fontanelles. Depending on the tumor location and the damage it may have caused to surrounding brain structures, either through compression or infiltration, any type of focal neurologic symptoms may occur, such as cognitive and behavioral impairment, personality changes, hemiparesis, (hemi) hypesthesia, aphasia, ataxia, visual field impairment, facial paralysis, double vision, tremor etc. These symptoms are not specific for brain tumors - they may be caused by a large variety of neurologic conditions (e.g. stroke, traumatic brain injury). What counts, however, is the location of the lesion and the functional systems (e.g. motor, sensory, visual, etc.) it affects. A bilateral temporal visual field defect (bitemporal hemianopia—due to compression of the optic chiasm), often associated with endocrine disfunction—either hypopituitarism or hyperproduction of pituitary hormones and hyperprolactinemia is suggestive of a pituitary tumor. Diagnosis Although there is no specific clinical symptom or sign for brain tumors, slowly progressive focal neurologic signs and signs of elevated intracranial pressure, as well as epilepsy in a patient with a negative history for epilepsy should raise red flags. However, a sudden onset of symptoms, such as an epileptic seizure in a patient with no prior history of epilepsy, sudden intracranial hypertension (this may be due to bleeding within the tumor, brain swelling or obstruction of cerebrospinal fluid's passage) is also possible. Imaging plays a central role in the diagnosis of brain tumors. Early imaging methods—invasive and sometimes dangerous—such as pneumoencephalography and cerebral angiography, have been abandoned in recent times in favor of non-invasive, high-resolution modalities, such as computed tomography (CT) and especially magnetic resonance imaging (MRI). Benign brain tumors often show up as hypodense (darker than brain tissue) mass lesions on cranial CT-scans. On MRI, they appear either hypo- (darker than brain tissue) or isointense (same intensity as brain tissue) on T1-weighted scans, or hyperintense (brighter than brain tissue) on T2-weighted MRI. Perifocal edema also appears hyperintense on T2-weighted MRI. Contrast agent uptake, sometimes in characteristic patterns, can be demonstrated on either CT or MRI-scans in most malignant primary and metastatic brain tumors. This is due to the fact that these tumors disrupt the normal functioning of the blood-brain barrier and lead to an increase in its permeability. Electrophysiological exams, such as electroencephalography (EEG) play a marginal role in the diagnosis of brain tumors. The definitive diagnosis of brain tumor can only be confirmed by histological examination of tumor tissue samples obtained either by means of brain biopsy or open surgery. The histologic examination is essential for determining the appropriate treatment and the correct prognosis. Treatment and prognosis Meningiomas, with the exception of some tumors located at the skull base, can be successfully removed surgically, but the chances are less than 50%. In more difficult cases, stereotactic radiosurgery, such as Gamma Knife radiosurgery, remains a viable option. Most pituitary adenomas can be removed surgically, often using a minimally invasive approach through the nasal cavity and skull base (trans-nasal, trans-sphenoidal approach). Large pituitary adenomas require a craniotomy (opening of the skull) for their removal. Radiotherapy, including stereotactic approaches, is reserved for the inoperable cases. Although there is no generally accepted therapeutic management for primary brain tumors, a surgical attempt at tumor removal or at least cytoreduction (that is, removal of as much tumor as possible, in order to reduce the number of tumor cells available for proliferation) is considered in most cases. However, due to the infiltrative nature of these lesions, tumor recurrence, even following an apparently complete surgical removal, is not uncommon. Postoperative radiotherapy and chemotherapy are integral parts of the therapeutic standard for malignant tumors. Radiotherapy may also be administered in cases of "low-grade" gliomas, when a significant tumor burden reduction could not be achieved surgically. Survival rates in primary brain tumors depend on the type of tumor, age, functional status of the patient, the extent of surgical tumor removal, to mention just a few factors. Patients with benign gliomas may survive for many years while survival in most cases of glioblastoma multiforme is limited to a few months after diagnosis. The main treatment option for single metastatic tumors is surgical removal, followed by radiotherapy and/or chemotherapy. Multiple metastatic tumors are generally treated with radiotherapy and chemotherapy. Stereotactic radiosurgery, such as Gamma Knife radiosurgery, remains a viable option. However, the prognosis in such cases is determined by the primary tumor, and it is generally poor. Symptoms include phantom odors and tastes. Often, in the case of metastatic tumors, the smell of galvanised vulcan rubber is prevalent. A shunt operation is used not as a cure but to relieve the symptoms. The hydrocephalus caused by the blocking drainage of the cerebrospinal fluid can be removed with this operation.

# Club Foot Clubfoot is when the foot turns inward and downward. It is a congenital condition, which means it is present at birth. ## Causes Clubfoot is the most common congenital disorder of the legs. It can range from mild and flexible to severe and rigid. The cause is not known, but the condition may be passed down through families in some cases. Risk factors include a family history of the disorder and being male. The condition occurs in about 1 out of every 1,000 live births. ## Symptoms The physical appearance of the foot may vary. One or both feet may be affected. The foot turns inward and downward at birth, and is difficult to place in the correct position. The calf muscle and foot may be slightly smaller than normal. ## Tests The disorder is identified during a physical examination. A foot x-ray may be done. ## Treatment Treatment may involve moving the foot into the correct position and using a cast to keep it there. This is often done by an orthopedic specialist. Treatment should be started as early as possible -- ideally, shortly after birth -- when it is easiest to reshape the foot. Gentle stretching and recasting will be done every week to improve the position of the foot. Generally, five to 10 casts are needed. The final cast will stay in place for 3 weeks. After the foot is in the correct position, the child will wear a special brace nearly full time for 3 months. Then, the child will wear the brace at night and during naps for up to 3 years. Often, the problem is a tightened Achilles tendon, and a simple procedure is needed to release it. Some severe cases of clubfoot will need surgery if other treatments do not work, or if the problem returns. The child should be monitored by a health care provider until the foot is fully grown. See: Clubfoot repair ## Contact a Doctor If: If your child is being treated for clubfoot, call your health care provider if: * The toes swell, bleed, or change color under the cast * The cast appears to be causing significant pain * The toes disappear into the cast * The cast slides off * The foot begins to turn in again after treatment

An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)

Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally located in skeletal muscle cells. In CNM the nuclei are located at a position in the center of the cell, instead of their normal location at the periphery. Although all forms of centronuclear myopathy are considered rare, the most commonly known form of CNM is Myotubular Myopathy (MTM). Symptoms of CNM include severe hypotonia, hypoxia-requiring breathing assistance, and scaphocephaly. Among centronuclear myopathies, the X-linked myotubular myopathy form typically presents at birth, and is thus considered a congenital myopathy. However, some centronuclear myopathies may present later in life. Literally, a myopathy is a disease of the muscle tissue itself. Myo derives from the word muscle and pathos means disease. There are literally dozens of different myopathies, and myopathies are not the only conditions that can cause muscle weakness. Other diseases can cause weakness such as medical conditions affecting sites outside of the muscle itself, including problems in the brain (such as stroke, cerebral palsy, multiple sclerosis), or problems in the spinal cord and/or nerve (such as polio and spinal muscular atrophy).

Cri du chat syndrome, also known as 5p minus syndrome or cat cry syndrome, is a genetic condition that is caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5. Infants with this condition often have a high-pitched cry that sounds like that of a cat.

Oppositional defiance disorder is a controversial psychiatric category listed in the Diagnostic and Statistical Manual of Mental Disorders where it is described as an ongoing pattern of disobedient, hostile, and defiant behavior toward authority figures that goes beyond the bounds of normal childhood behavior. To meet DSM-IV-TR criteria, certain factors must be taken into account. First, the defiance must interfere with the child’s ability to function in school, home, or the community. Second, the defiance cannot be the result of another disorder, such as depression, anxiety, or the more serious Conduct Disorder. Third, the child’s problem behaviors have been happening for at least six months. The diagnostic criteria for this disorder are as follows: * Losing temper * Arguing with adults * Refusing to follow the rules * Deliberately annoying people * Blaming others for own mistakes * Easily annoyed * Angry and resentful * Spiteful or even vengeful If the child meets at least four of these criteria, and they are interfering with the child’s ability to function, then he or she technically meets the definition of Oppositionally defiant. Prevalence The DSM-IV cites a prevalence of between 2 & 16% for ODD. Prognosis Childhood Oppositional Defiance Disorder is strongly associated with later developing Conduct Disorder. Untreated, about 52% of chldren with ODD will continue to meet the DSM-IV criteria up to three years later and about half of those 52% will progress into Conduct Disorder. Treatment There are a variety of approaches to the treatment of Oppositional Defiance Disorder (ODD). One evidence-based approach with empirical support is an approach developed by Russell A. Barkley, Ph.D. This approach uses a parent training model and begins by focussing on positive approaches to increase compliant behaviours. Only later in the program are methods introduced to extinguish negative or noncompliant behaviours. Controversy The category of Oppositional defiance disorder as outlined in the DSM has attracted criticism and controversy since DSM III-R where it was established that while Oppositional defiant disorder was one of only seven categories out of more than 300 in that revision for which field trials had taken place, the results of those field trials are not reported in the DSM III-R and do not seem to be available for examination elsewhere. In the course of trying to determine the possible extent of the effects of gender bias on the precision of categories in the DSM, Psychologist Paula J. Caplan, PhD and graduate student Kaye Lee Pantony wrote about whether the research confirmed the existence of such mental disorders as those represented by the labels of the categories they had chose to study, whether research had made it possible to discover the actual elements, or criteria, of each disorder; and whether research had made it possible to discover exactly how many criteria a person had to meet in order to belong clearly to a particular category. Aiming for a wide variety of diagnoses, they chose to examine three categories that could be applied to people of either sex. One of the categories they selected was Oppositional defiance disorder. Their opinion was that, "In view of all of that research, we were frankly amazed to find that not a single empirically based article included any evidence of what the cutoff point for any of these three categories ought to be. In other words, there was no research on which to base the DSM's prescriptions about many criteria a person had to meet in order to be given any of those three labels: AD, ODD, or OCD. Those prescriptions cannot be said to have been derived from any scientific work whatsoever." They could only find seven articles that mentioned Oppositional defiance disorder at all and none of them mentioned the selection of criteria or the cutoff point for ODD. Their opinion was that, "All told, then, there was little or no scientific evidence to justify the ways the criteria and cutoff points were chosen for a wide variety of DSM categories. It seems possible but highly unlikely that more rigorous standards were used for the categories that we happened not to study."

Iritis is a form of anterior uveitis and refers to the inflammation of the iris of the eye. Types There are two main types of iritis, which are called acute iritis and chronic iritis. Acute iritis is a type of iritis that can heal independently within a few weeks. If treatment is provided, acute iritis improves quickly. Chronic iritis can exist for months or years before recovery occurs. Chronic iritis does not respond to treatment as well as acute iritis does. Chronic iritis is also accompanied by a higher risk of serious visual impairment. Signs and symptoms Ocular and periorbital pain Photophobia Consensual photophobia (pain in affected eye when light is shone in unaffected eye) Blurred or cloudy vision White blood cells (leukocytes) (resulting in a grey or near-white haze) and protein (resulting in tiny white dots) in the anterior chamber, often called "cells and flare." Synechia or adhesion of iris to lens or cornea Causes People with ankylosing spondylitis and other HLA-B27 related disorders are prone to iritis, iridocyclitis, and other forms of uveal tract inflammation. Iritis is also found in those with rheumatoid arthritis, Behcet's disease, Crohn's disease, lupus, Reiter's disease, chronic psoriasis, psoriatic arthritis, sarcoidosis, scleroderma, and ulcerative colitis. Iritis is usually secondary to some other systemic condition, but can be the only apparent somatic symptom. Complications Complications of iritis may include the following: Cataract, glaucoma, corneal calcification, posterior uveitis, blindness, band keratopathy, and cystoid macular oedema. Treatment Steroid anti-inflammatory eye drops (such as prednisolone acetate) Dilating eye drops (to help prevent synechia and reduce photophobia) Pressure-reducing eye drops (such as brimonidine tartrate) Oral steroids (such as prednisone) Subconjunctival steroid injections Steroid-sparing agents such as methotrexate (for prolonged, chronic iritis)

Lyme Disease is a disease that is transmitted through a tick bite, from a tick that carries Lyme Disease. Lyme disease (Borreliosis) is a bacterial infection with a spirochete from the species complex Borrelia burgdorferi, which is most often acquired from the bite of an infected Ixodes, or black-legged, tick, also known as a deer tick. The deer tick is frequently mistaken for a dog tick which is more common and larger in size. Borrelia burgdorferi sensu stricto is the predominant cause of Lyme disease in the U.S.; Lyme disease in Europe is more often caused by Borrelia afzelii or Borrelia garinii. The disease varies widely in its presentation, which may include a rash and flu-like symptoms in its initial stage, followed by the possibility of musculoskeletal, arthritic, neurologic, psychiatric and cardiac manifestations. In most cases of Lyme disease, symptoms can be eliminated with antibiotics, especially if treatment is begun early in the course of illness. A percentage of patients with Lyme disease have symptoms that last months to years after treatment with antibiotics. These symptoms can include muscle and joint pains, arthritis, stiff neck, cognitive defects, neurological complaints or fatigue. The cause of these continuing symptoms is not yet known. There is some evidence that they may result from an autoimmune type of response, in which a person’s immune system continues to respond even after the infection has been cleared, as well as evidence of ongoing infection with the spirochete. Delayed or inadequate treatment may often lead to late stage Lyme that is disabling and difficult to treat. Amid great controversy over diagnosis, testing and treatment, two different standards of care for Lyme disease have emerged.

Maintaining a healthy diet is the practice of making choices about what to eat with the intent of improving or maintaining good health. Usually this involves consuming necessary nutrients by eating the appropriate amounts from all of the food groups. Since human nutrition is complex a healthy diet may vary widely subject to an individual's genetic makeup, environment, and health. For around 20% of the planet's population, lack of food and malnutrition are the main impediments to healthy eating.

Fibrosing Mediastinitis is a rare benign disorder caused by rapid and repeated growth of acellular collagen and fibrous tissue within the chest including the central vessels and airways. Patients of fibrosing mediastinitis are usually young and can present with symptoms such as obstruction or compression of the central airways, esophagus, pulmonary veins or arteries and superior vena cava (SVC). Fibrosing Mediastinitis can be either idiopathic (arising spontaneously) or from an abnormal immunologic response to Histoplasma capsulatum (histoplasmosis).

Gulf War syndrome (GWS) or Gulf War illness (GWI) is the name given to an illness with symptoms including increases in the rate of immune system disorders and birth defects, reported by combat veterans of the 1991 Persian Gulf War. It has not always been clear whether these symptoms were related to Gulf War service. New research indicates that war veterans who have developed numerous health complaints have areas of the brain that are measurably smaller than those of healthier vets. Symptoms attributed to this syndrome have been wide-ranging, including chronic fatigue, loss of muscle control, headaches, dizziness and loss of balance, memory problems, muscle and joint pain, indigestion, skin problems, and shortness of breath. U.S. Gulf War veterans have experienced mortality rates exceeding those of U.S. Vietnam veterans. Brain cancer deaths, amyotrophic lateral sclerosis (commonly known as Lou Gehrig's disease) and fibromyalgia are now recognized by the Defense and Veterans Affairs departments as potentially connected to service during the Gulf War. Possible causes At the December 2005 Research Advisory Committee on Gulf War Veterans' Illnesses meeting the following potential causes were still being considered, others which have been suggested through the years having been ruled out: * combustion products from depleted uranium munitions, * side-effects from the early 1990s' anthrax vaccine, * infectious diseases from parasites, * chemical weapons such as nerve gas or mustard gas, and * combinations of the above factors; The following substances were found to be associated with increased GWI symptoms in combat soldiers, but have been ruled out except as confounding factors because the exposed non-combat cohort did not also develop symptoms: * pesticides and insect repellents, and * pyridostigmine bromide, a drug to protect against nerve agents. Other causes suggested have apparently been eliminated from consideration by authorities: * smoke from oil well fires, * post-traumatic stress disorder and other psychological and psychosomatic causes, * multiple chemical sensitivity, * biological weapons, * inhibited red-fuming nitric acid (IRFNA), a rocket fuel/oxidizing agent used in SS-1 Scud (and derived) ballistic missiles, SA-2 Guideline surface-to-air missiles and possibly other pieces of Iraqi military technology. and * military experimentation * consumption of overheated aspartame in diet soft drinks such as diet coke that are not Tab (soft drink) (tab contains saccharin). During the war, several oil wells were set on fire, and the smoke from those fires was inhaled by large numbers of soldiers, many of whom suffered acute pulmonary and other chronic effects, including asthma and bronchitis. However, none of the firefighter companies assigned to the oil well fires encountering the smoke but not combat have had any GWI symptoms. Anthrax vaccine During Operation Desert Storm, 41% of U.S. combat soldiers and 57-75% of UK combat soldiers were vaccinated against anthrax. The early 1990s version of the anthrax vaccine was a source of several serious side effects including GWI symptoms. The vaccine was particularly painful when administered, and often caused a severe local skin reaction that lasted for weeks or months. While Food and Drug Administration (FDA) approved, it never went through large scale clinical trials, in comparison to almost all other vaccines in the United States. Data linking squalene in the vaccine to Gulf War Syndrome was "presented in the peer-reviewed February 2000 and August 2002 articles. The published findings (1) strongly suggest that the GWI-like illness being reported by all of the various patient groups is the same illness, (2) strongly suggest that the contaminated vaccine caused the illness in the AVIP group, and (3) further suggest that squalene contamination of one or more 1990-1991-era vaccines accounts for the GWI cases from that era." The sickest veterans tended to have the highest levels of squalene antibodies in their bloodstream. Even after the war, troops that had never been deployed overseas, after receiving the anthrax vaccine, developed symptoms similar to those of Gulf War Syndrome. The Pentagon failed to report to Congress 20,000 cases where soldiers were hospitalized after receiving the vaccine between 1998 and 2000. 252 Members of a U.S. Air Force Squadron who received the vaccine were surveyed, and 139 of these returned their questionnaires. Of these, 58% reported reactions, often consistent with some features of a Gulf War Syndrome type illness, including: joint and muscle pain (41%), decreased energy and tiredness (29%), reduced concentration (28%), short-term memory loss (24%), and sleep problems (17%). In 2000, a medical examiner ruled that anthrax vaccine was a contributing factor in the death of a civilian who helped manufacture the vaccine given to U.S. troops. That same year, a Canadian judge ruled that the anthrax vaccine was potentially unsafe, halting the trial of a soldier who had been court-martialled for refusing to take it. Despite repeated assurances that the vaccine was safe and necessary, a U.S. Federal Judge ruled that there was good cause to believe it was harmful, and he ordered the Pentagon to stop administering it in October 2004.That ban has not been lifted. Anthrax vaccine is the only substance suspected in Gulf War syndrome to which forced exposure has since been banned to protect troops from it. In July 2005, a U.S. soldier was awarded a disability pension for medical problems which developed after his anthrax vaccination, after a Federal Appeals Court ruled in his favor. On December 15, 2005, the Food and Drug Administration, released a Final Order finding that anthrax vaccine is safe and effective. All vaccines cause adverse events in a subset of those to whom they are administered. Women who receive the vaccine get pregnant and deliver children at the same rates as unvaccinated women. Anthrax vaccination has no effect on pregnancy and birth rates or adverse birth outcomes. Note: the anthrax vaccine used in the early 1990s was different than the vaccine approved for use today. Chemical weapons Many of the symptoms, other than low cancer incidence rates, of Gulf War syndrome are similar to the symptoms of organophosphate, mustard gas, and nerve gas poisoning.[citation needed] Gulf War veterans were exposed to a number of sources of these compounds, including nerve gas and pesticides. Over 125,000 U.S. troops and 9,000 UK troops were exposed to nerve gas and mustard gas when an Iraqi depot in Khamisiyah, Iraq was bombed in 1991. One of the most unusual events during the build-up and deployment of British forces into the desert of Saudi Arabia was the constant alarms from the NIAD detection systems deployed by all British forces in theatre. The NIAD is a chemical and biological detection system that is set-up some distance away from a deployed unit, and will set off an alarm automatically if an agent is detected. During the troop build-up, these detectors were set off on a large number of occasions, making the soldiers don their respirators. Many reasons were given for the alarms, ranging from fumes from helicopters, fumes from passing jeeps, cigarette smoke and even deodorant worn by troops manning the NIAD posts. Although the NIAD had been deployed countless times in peacetime exercises in the years before the Gulf War, the large number of alarms was, to say the least, very unusual, and the reasons given were something of a joke among the troops. The Riegle Report said that chemical alarms went off 18,000 times during the Gulf War. The United States did not have any biological agent detection capability during the Gulf War. After the air war started on January 16, 1991, coalition forces were chronically exposed to low (nonlethal) levels of chemical and biological agents released primarily by direct Iraqi attack via missiles, rockets, artillery, or aircraft munitions and by fallout from allied bombings of Iraqi chemical warfare munitions facilities. Chemical detection units from the Czech Republic, France, and Britain confirmed chemical agents. French detection units detected chemical agents. Both Czech and French forces reported detections immediately to U.S. forces. U.S. forces detected, confirmed, and reported chemical agents; and U.S. soldiers were awarded medals for detecting chemical agents. Some, including Richard Guthrie, an expert in chemical warfare at Sussex University, have argued that a likely cause for the increase in birth defects was the Iraqi Army’s use of teratogenic mustard agents. Plaintiffs in a long-running class action lawsuit continue to assert that sulphur mustards might be responsible. Depleted uranium Depleted uranium (DU) was used in tank kinetic energy penetrator and autocannon rounds on a large scale for the first time in the Gulf War. DU munitions often burn when they impact a hard target, producing toxic combustion products. The toxicity, effects, distribution, and exposure involved have all been the subject of a lengthy and complex debate. Because uranium is a heavy metal and chemical toxicant with nephrotoxic (kidney-damaging), teratogenic (birth defect-causing), and potentially carcinogenic properties, uranium exposure is associated with a variety of illnesses. The chemical toxicological hazard posed by uranium dwarfs its radiological hazard because it is only weakly radioactive, and depleted uranium even less so. Early studies of depleted uranium aerosol exposure assumed that uranium combustion product particles would quickly settle out of the air and thus could not affect populations more than a few kilometers from target areas, and that such particles, if inhaled, would remain undissolved in the lung for a great length of time and thus could be detected in urine. Uranyl ion contamination has been found on and around depleted uranium targets. DU has recently been recognized as a neurotoxin. In 2005, depleted uranium was shown to be a neurotoxin in rats. In 2001, a study was published in Military Medicine that found DU in the urine of Gulf War veterans. Another study, published by Health Physics in 2004, also showed DU in the urine of Gulf War veterans. A study of UK veterans who thought they might have been exposed to DU showed aberrations in their white blood cell chromosomes. Mice immune cells exposed to uranium exhibit abnormalities. Increases in the rate of birth defects for children born to Gulf War veterans have been reported. A 2001 survey of 15,000 U.S. Gulf War combat veterans and 15,000 control veterans found that the Gulf War veterans were 1.8 (fathers) to 2.8 (mothers) times as likely to report having children with birth defects. In early 2004, the UK Pensions Appeal Tribunal Service attributed birth defect claims from a February 1991 Gulf War combat veteran to depleted uranium poisoning. In 2005, uranium metalworkers at a Bethlehem plant near Buffalo, New York, exposed to frequent occupational uranium inhalation risks, were alleged by non-scientific sources to have the same patterns of symptoms and illness as Gulf War Syndrome victims. In the Balkans war zone where depleted uranium was also used, an absence of problems is seen by some as evidence of DU muntions' safety. "Independent investigations by the World Health Organization, European Commission, European Parliament, United Nations Environment Programme, United Kingdom Royal Society, and the Health Council of the Netherlands all discounted any association between depleted uranium and leukemia or other medical problems." Since then, there has been a resurgence of interest in the health effects of depleted uranium, especially since it has recently been linked with neurotoxicity. Infectious diseases Along with possible confounding problems caused by exposure to more than one of the substances listed above, comorbidities with infectious diseases have also not been ruled out. Suspected diseases include leishmaniasis, from sandfly bites, and fungal mycoplasma parasites. There are some who believe that Gulf War Syndrome is the result of a contagious bacteria. There are anecdotal reports of improvement in some victims when treated with antibiotics. Further effects of Gulf War Syndrome include a decrease in the quality of vision and hair loss. The Stress Theory Few would disagree that war is a stressful experience or that all wars carry psychological consequences. Indeed from as far back as the American Civil War there have been reports of the impact of stress on soldier’s emotional wellbeing in the form of Soldier’s heart soldier’s heart. Many psychiatric conditions, including depression and Post Traumatic Stress Disorder (PTSD) can present with physical as well as psychological symptoms. So could Gulf War Syndrome be a physical manifestation of a psychiatric illness? We know that veterans who were diagnosed with PTSD following World War II, the wars in Vietnam and Lebanon, and the more recent Iraq war all reported poorer self-rated health, and more physical symptoms, independent of their physical injuries. What’s more, post-traumatic stress symptomology has been associated with increased symptom reporting among Persian Gulf war veterans too. Such symptoms in the Gulf war veterans included memory loss, fatigued, confusion, gastrointestinal distress, muscle or joint pain and skin or mucous membrane lesions – all of them possible GWS symptoms as well. Robert Haley, who first wrote about Gulf War Syndrome and is a critique of the “Stress Theory” of GWS has argued that the way in which we measure PTSD has resulted in a large number of false positives [53], and goes on to state that the true rate of PTSD in Gulf veterans in negligible. What does the data show? The rates of PTSD in US and UK do vary considerably (from 2%-25%) but in both self-report and questionnaire based studies it was observed that Gulf war veterans were significantly more likely to report symptoms of PTSD. Overall, what is clear is that the true rates of PTSD, measured by interview and not questionnaire, are indeed elevated. A British study compared disabled and non disabled Gulf veterans, and found that the rates more than doubled in the disabled veterans. And that kind of finding has been repeated several times. But does that mean that GWS really is a manifestation of PTSD? No. In the same study the rate of PTSD was indeed increased in the sick gulf veterans, but the increase was from 1% to 3%. So 97% of this group do not have PTSD. And whilst twice as many veterans in the disabled group had a formal psychiatric disorder, the remaining 75% did not [59]. Similarly, an American study also reported a link between serving in the Gulf, PTSD, depression and health problems. But again concede that this is unlikely to be the sole cause of Gulf war symptoms. So PTSD is not the sole explanation of GWS. However, does this mean that stress plays no role in the aetiology of GWS? Perhaps not. The stress and stressors of the early phases of the Gulf war were very real to those preparing to enter Theatre [60]. Not only were the usual pre-combat stressors such as family adjustment and the uncertainty of tour length present, but the very real threat of chemical and biological weapons induced extreme fear in those deployed [61]. Back in 1991 the threat of chemical and biological weapons was real, genuine and serious – this bears no relation to the more recent WMD saga. It is possible that this prolonged stated of anxiety may have led to increased sensitivity to physical symptoms. After all, soldiers were intentionally made aware of the signs and symptoms of chemical and biological weapons and how to respond to them. Perhaps they became chronically sensitised. We do know that pre-combat stressors and stress symptoms were effective predictors of physical health post-deployment. So there is little doubt that service in the Gulf war, perhaps like service in any war, is indeed associated with an increased risk of longer term psychological problems, and that these do overlap with the symptoms of GWS, but that they are insufficient to explain it. And finally, we should not under estimate the impact of spending up to six months in the build up to the war (“Desert Shield”) living under the very real threat of chemical and biological weapons.

Williams syndrome (also Williams-Beuren syndrome, sometimes called Pixieism) is a rare genetic disorder, occurring in fewer than 1 in 7,500 live births. Symptoms It is characterized by a distinctive, "elvish" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers, coupled with unpredictably occurring negative outbursts; mental retardation coupled with unusual (for persons who are diagnosed as mentally retarded) language skills; a love for music; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia. Williams syndrome shares some features with autism (such as difficulty understanding the state of mind of conversational partners) and Fetal alcohol syndrome (e.g., certain facial features, possible mental retardation, and negative potential outbursts), although persons with Williams generally possess very good social skills, such that this condition is sometimes called "cocktail-party syndrome". Temple Grandin, author of Thinking in Pictures, has claimed that the brain abnormalities of Williams syndrome are the opposite of those of autism. There also appears to be a higher prevalence of left-handedness and left-eye dominance in those with Williams, and cases of absolute pitch appear to be significantly higher amongst those with the condition. Another symptom of Williams syndrome is lack of depth perception and an inability to visualize how different parts assemble into larger objects (in assembling jigsaw puzzles, for example). This problem is caused by a defect in the brain that creates a sparsity of tissue in the visual systems of the brain. A team of researchers at the National Institute of Mental Health used functional magnetic-resonance imaging (fMRI) to watch the blood flow of the brains of test subjects while they were performing two tasks involving spatial relations. People with Williams Syndrome showed weaker activity in the section of the brain associated with spatial relations. Scans of brain anatomy of test subjects with Williams indicated a deficit of brain tissue in an area of the same section of the brain mentioned above. This deficit partly blocks transmission of visual information to the spatial-relations region of the brain. In the test, all participants of the study measured in the average intelligence range, to remove the possibility that the retardation aspect of Williams syndrome would have an effect on the visual systems of the tested individuals. An interesting experiment documented the fact that when shown a picture, Williams Syndrome people drew the small details while people with Downs Syndrome drew the big picture. Williams syndrome is caused by the deletion of genetic material from the region q11.2 of chromosome 7. The deleted region includes more than 20 genes, and researchers believe that the loss of several of these genes probably contributes to the characteristic features of this disorder. CYLN2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that loss of the ELN gene, which codes for the protein elastin, is associated with the connective-tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis (SVAS) and supravalvular pulmonary stenosis (SVPS)) found in many people with this disease. Studies suggest that deletion of LIMK1, GTF2I, GTF2IRD1, and perhaps other genes may help explain the characteristic difficulties with visual–spatial tasks. Additionally, there is evidence that the loss of several of these genes, including CYLN2, may contribute to the unique behavioral characteristics, mental retardation, and other cognitive difficulties seen in Williams syndrome.

Bipolar disorder, also know as manic-depressive illness, is characterized by extreme emotional mood swings from low (depression) to high (mania). People suffering from bipolar disorder can also experience milder mood swings with mixed emotions. Changes in mood can be rapid and dramatic or more commonly of gradual onset. Bipolar disorder is found to run in families and so likely has a genetic component, but it also can affect people with no family history of depression. Problems with hormone levels and chemicals (neurotransmitters) in the brain are believed to play a role in bipolar disorder, but as of yet the exact cause is not known. Bipolar disorder may be difficult to detect because of its episodic nature, but typically begins in adolescence or early adulthood. If untreated, people who suffer from bipolar disorder will experience on average four manic episodes in ten years. Manic episodes can begin with feelings of elation and increased energy, but can spiral into compromised judgment and lack of control. Treatment is usually highly successful if the treatment plan is followed. Treatment may include medication (mood stabilizers, antidepressants, antipsychotics), electroconvulsive therapy (ECT), psychotherapy, and continued support from family and friends.

# High Cholesterol High blood cholesterol is the presence of high levels of cholesterol in the blood. It is not a disease but a metabolic derangement that can be secondary to many diseases and can contribute to many forms of disease, most notably cardiovascular disease. It is closely related to the terms "hyperlipidemia" (elevated levels of lipids) and "hyperlipoproteinemia" (elevated levels of lipoproteins). Familial hypercholesterolemia is a rare genetic disorder that can occur in families, where sufferers cannot properly metabolise cholesterol. ## Signs and symptoms Elevated cholesterol does not lead to specific symptoms unless it has been longstanding. Some types of hypercholesterolemia lead to specific physical findings: xanthoma (thickening of tendons due to accumulation of cholesterol), xanthelasma palpabrum (yellowish patches around the eyelids) and arcus senilis (white discoloration of the peripheral cornea). Longstanding elevated hypercholesterolemia leads to accelerated atherosclerosis; this can express itself in a number of cardiovascular diseases: * Angina pectoris, leading to PTCA or CABG * Myocardial infarction (heart attack) * Transient ischemic attacks (TIAs) * Cerebrovascular accidents/Strokes * Peripheral artery disease (PAD) ## Diagnosis When measuring cholesterol, it is important to measure its subfractions before drawing a conclusion on the cause of the problem. The subfractions are LDL, HDL and VLDL. In the past, LDL and VLDL levels were rarely measured directly due to cost concerns. VLDL levels are reflected in the levels of triglycerides (generally about 45% of triglycerides is composed of VLDL). LDL was usually estimated as a calculated value from the other fractions (total cholesterol minus HDL and VLDL); this method is called the Friedewald calculation; specifically: LDL ~= Total Cholesterol - HDL - (0.2 x Triglycerides). Less expensive (and less accurate) laboratory methods and the Friedewald calculation have long been utilized because of the complexity, labor and expense of the electrophoretic methods developed in the 1970s to identify the different lipoprotein particles which transport cholesterol in the blood. As of 1980, the original methods, developed by research work in the mid-1970s cost about $5K, US 1980 dollars, per blood sample/person. With time, more advanced laboratory analyses have been developed which do measure LDL and VLDL particle sizes and levels, and at far lower cost. These have partly been developed and become more popular as a result of the increasing clinical trial evidence that intentionally changing cholesterol transport patterns, including to certain abnormal values compared to most adults, often has a dramatic effect on reducing, even partially reversing, the atherosclerotic process. With ongoing research and advances in laboratory methods, the prices for more sophisticated analyses have markedly decreased, to less than $100, US 2004, by some labs, and with simultaneous increases in the accuracy of measurement for some of the methods. ## Screening Screening for a disease refers to testing for a disease, such as hypercholesterolemia, in a patients who have no signs or symptoms of the disease. In patients without any other risk factors, moderate hypercholesterolemia is often not treated. According to Framingham Heart Study, people with an age greater than 50 years have no increased overall mortality with either high or low serum cholesterol levels. There is, however, a correlation between falling cholesterol levels over the first 14 years and mortality over the following 18 years (11% overall and 14% CVD death rate increase per 1 mg/dL per year drop in cholesterol levels). This, however, does not mean that a decrease in serum levels is dangerous, as there has not yet been a recorded heart attack in the study in a person with a total cholesterol below 150 mg/dL. The U.S. Preventive Services Task Force (USPSTF) has evaluated screening for hypercholesterolemia ## Classification ### Fredrickson classification Classically, hypercholesterolemia was categorized by lipoprotein electrophoresis and the Fredrickson classification. Newer methods, such as "lipoprotein subclass analysis" have offered significant improvements in understanding the connection with atherosclerosis progression and clinical consequences. If the hypercholesterolemia is hereditary (familial hypercholesterolemia), there is more often a family history of premature, earlier onset atherosclerosis, as well as familial occurrence of the signs mentioned above. ## Secondary causes There are a number of secondary causes for high cholesterol: * Diabetes mellitus and metabolic syndrome * Kidney disease (nephrotic syndrome) * Hypothyroidism * Anorexia nervosa * Zieve's syndrome * Family history * Diet: Saturated fat raises blood cholesterol levels. Although dietary cholesterol exerts some influence, the regulatory mechanism of the liver upon absorption of cholesterol decreases the effect of dietary cholesterol on total cholesterol levels. Thus it is mainly by limiting the amount of saturated fat in one's diet that helps lower total serum cholesterol.[citation needed] * Weight. Being overweight is a definite risk factor for heart disease. It also tends to increase your cholesterol. Losing weight can help lower your LDL and total cholesterol levels, as well as raise your HDL and lower your triglyceride levels. * Physical Activity. Lack of physical activity is a risk factor for heart disease. Regular physical activity can also help lower LDL (bad) cholesterol and raise HDL (good) cholesterol levels. It also helps you lose weight. All three of these activities done together can have a positive effect on one's blood cholesterol level.

Factor V Leiden (sometimes Factor VLeiden) is the name given to a variant of human factor V that causes a hypercoagulability disorder. In this disorder the Leiden variant of factor V, cannot be inactivated by activated protein C. Factor V Leiden is the most common hereditary hypercoagulability disorder amongst Eurasians. It is named after the city Leiden (The Netherlands), where it was first identified in 1994 by Prof R. Bertina et al. Pathophysiology In the normal person, factor V functions as a cofactor to allow factor X to generate the active form of an enzyme called thrombin. Thrombin in turn cleaves fibrinogen to fibrin, which polymerizes to form the dense meshwork that makes up the majority of a clot. Activated protein C (aPC) is a natural anticoagulant that acts to limit the extent of clotting by cleaving and degrading factor V. Factor V Leiden is an autosomal dominant condition in which the coagulation factor cannot be destroyed by aPC. Mutation of the gene encoding factor V—a single nucleotide substitution of adenine for guanine—changes the protein's 506th amino acid from arginine to glutamine . Since this amino acid is normally the cleavage site for aPC, the mutation prevents efficient inactivation of factor V. When factor V remains active, it facilitates overproduction of thrombin leading to excess fibrin generation and excess clotting. The excessive clotting that occurs in this disorder is almost always restricted to the veins, where the clotting may cause a deep vein thrombosis (DVT). If the venous clots break off, these clots can travel through the heart to the lung, where they block a pulmonary blood vessel and cause a pulmonary embolism. Women with the disorder have an increased risk of miscarriage and stillbirth. This disorder does not increase the formation of clots in arteries that can lead to stroke or heart attack, though a "mini-stroke" known as a transient ischemic attack may occur. Epidemiology Studies have found that about 5% of caucasians in North America have factor V Leiden. The disease is less common in Hispanics and African-Americans and is extremely rare in people of Asian descent. Up to 30% of patients who present with deep vein thrombosis (DVT) or pulmonary embolism have this condition. Factor V Leiden doubles the risk that a person will have a DVT during their life, but it is unclear whether these individuals are at increased risk for recurrent a venous thrombosis. While only 1% of people with factor V Leiden have two copies of the defective gene, these homozygous individuals have a more severe clinical condition. The presence of acquired risk factors for venous thrombosis -- including smoking, oral contraceptive use, and recent surgery -- further increase the chance that an individual with the factor V Leiden mutation will develop DVT. Women with Factor V Leiden have a substantially increased risk of clotting in pregnancy (and on estrogen containing birth control pills or hormone replacement) in the form of deep vein thrombosis and pulmonary embolism. They also have an increased risk of preeclampsia, as well as miscarriage and stillbirth due to clotting in the placenta, umbilical cord, or the fetus (fetal clotting may depend on whether the baby has inherited the gene). Note that many of these women go through one or more pregnancies with no difficulties, while others may miscarry over and over again, and still others may develop clots within weeks of becoming pregnant. Diagnosis Suspicion of factor V Leiden being the cause for any thrombotic event should be considered in any white patient below the age of 45, or in any person with a family history of venous thrombosis. This disease can be diagnosed by watching the aPTT (the time it takes for blood to clot) as activated protein C is added. With a normal patient, adding aPC increases the APTT. In patients with factor V Leiden, adding aPC will barely affect the time it takes for blood to clot. There is also a simple genetic test that can be done for this disorder. The mutation (a 1691G→A substitution) removes a cleavage site of the restriction endonuclease MnlI, so simple PCR, treatment with MnlI, and then DNA electrophoresis will give a quick diagnosis.

Osteogenesis imperfecta (OI and sometimes known as Brittle Bone Disease) is a genetic bone disorder. People with OI are born without the proper protein (collagen), or the ability to make it. People with OI either have less collagen than normal or the quality is poorer than normal. As collagen is an important protein in bone structure, this impairment causes those with the condition to have weak or fragile bones. As a genetic disorder, OI is an autosomal dominant defect. Most people with OI receive it from a parent but it can also be an individual (de novo or "sporadic") mutation.

Stroke (or cerebrovascular accident or CVA) is the clinical designation for a rapidly developing loss of brain function due to an interruption in the blood supply to all or part of the brain. This phenomenon can be caused by thrombosis, embolism, or hemorrhage (AE) haemorrhage (BE). Stroke is a medical emergency and can cause permanent neurological damage or even death if not promptly diagnosed and treated. It is the third leading cause of death and the leading cause of adult disability in the United States and industrialized European nations. The symptoms of stroke can be quite heterogeneous, and patients with the same cause of stroke can have widely differing handicaps. Conversely, patients with the same clinical handicap can in fact have different underlying causes. The cause of stroke is an interruption in the blood supply, with a resulting depletion of oxygen and glucose in the affected area. This immediately reduces or abolishes neuronal function, and also initiates an ischemic cascade which causes neurons to die or be seriously damaged, further impairing brain function. Risk factors for stroke include advanced age, hypertension (high blood pressure), previous stroke or TIA (transient ischaemic attack), diabetes mellitus, high cholesterol, cigarette smoking, atrial fibrillation, migraine with aura, and thrombophilia. In clinical practice blood pressure is the most important modifiable risk factor of stroke, however many other risk factors, such as cigarette smoking cessation and treatment of atrial fibrillation with anticoagulant drugs, are important. The traditional definition of stroke, devised by the World Health Organisation in the 1970s, is of a 'neurological deficit of cerebrovascular cause that persists beyond 24 hours or is interrupted by death within 24 hours'. This definition was largely devised for the purpose of research and the time frame of 24 hours appears purely arbitarily chosen as a cut-off point. It divides stroke from TIA (or 'mini-stroke'), which is the same as above but completely resolves clinically within 24 hours. The division of stroke and TIA into separate clinical entities is considered impractical and even unhelpful in practice by many stroke doctors. The main reason for this is the fact that stroke and TIA are caused by the same disease process, and both persons with a stroke or a TIA are at a higher risk of a subsequent stroke. In recognition of this, and improved methods for the treatment of stroke, the term "brain attack" is being promoted in the Western World as a substitute for stroke or TIA. The new term makes an analogy with "heart attack" (myocardial infarction), because in both conditions, an interruption of blood supply causes death of tissue that is highly time dependent ('time is brain') and potentially life-threatening. Many hospitals have "brain attack" teams within their neurology departments specifically for swift treatment of stroke.

Prinzmetal's Syndrome, also known as Prinzmetal's angina, also known as variant angina or angina inversa, is a syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). It was first described in 1959 by the American cardiologist Dr. Myron Prinzmetal (1908-1987). Features Symptoms typically occur at rest, rather than on exertion (thus attacks usually occur at night). Two-thirds of patients have concurrent atherosclerosis of a major coronary artery, but this is often mild or not in proportion to the degree of symptoms. It is associated with specific EKG changes (elevation rather than depression of the ST segment). Diagnosis Patients who develop cardiac chest pain are generally treated empirically as an "acute coronary syndrome", and are generally tested for cardiac enzymes such as creatine kinase isoenzymes or troponin I or T. These may show a degree of positivity, as coronary spasm too can cause myocardial damage. Echocardiography or thallium scintigraphy is often performed. The gold standard is coronary angiography with injection of provocative agents into the coronary artery. Rarely, an active spasm can be documented angiographically (e.g. if the patient receives an angiogram with intent of performing a primary coronary intervention with angioplasty). Depending on the local protocol, provocation testing may involve substances such as ergonovine, methylergonovine or acetylcholine. Exaggerated spasm is diagnostic of Prinzmetal angina. EKG finding will more often show ST segment elevation than ST depression. Treatment Prinzmetal angina typically responds to nitrates and calcium channel blockers.

Hypertension, commonly referred to as "high blood pressure", is a medical condition in which the blood pressure is chronically elevated. While it is formally called arterial hypertension, the word "hypertension" without a qualifier usually refers to arterial hypertension. Hypertension has been associated with a higher risk of heart attack or stroke. Persistent hypertension is one of the risk factors for strokes, heart attacks, heart failure and arterial aneurysm, and is a leading cause of chronic renal failure. Hypertension can be classified as either essential (primary) or secondary. Essential hypertension indicates that no specific medical cause can be found to explain a patient's condition. Secondary hypertension indicates that the high blood pressure is a result of (i.e. secondary to) another condition, such as kidney disease or certain tumors (especially of the adrenal gland). Recently, the JNC 7 (the Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure) has defined blood pressure 120/80 mmHg to 139/89 mmHg as "prehypertension." Prehypertension is not a disease category; rather, it is a designation chosen to identify individuals at high risk of developing hypertension. The Mayo Clinic website specifies blood pressure is "normal if it's below 120/80" but that "some data indicate that 115/75 mm Hg should be the gold standard." "In patients with diabetes mellitus or kidney disease studies have shown that blood pressure over 130/80 mmHg should be considered high and warrants further treatment. Even lower numbers are considered diagnostic using home blood pressure monitoring devices.

Sarcoidosis is a disease characterized by the growth of tiny collections of inflammatory cells (granulomas) in any part of your body — most commonly the lungs and lymph nodes. But it can also affect the eyes, skin, heart and other organs.

Lung cancer is a type of cancer that begins in the lungs. Your lungs are two spongy organs in your chest that take in oxygen when you inhale and release carbon dioxide when you exhale.